Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR2T3	343173	broad.mit.edu	37	1	248637572	248637572	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:248637572G>A	ENST00000359594.2	+	1	946	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCTCTGAGGAGCATGATGC	0.468000													23	439					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840164	150840164	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:150840164G>T	ENST00000370357.4	+	13	1595	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	450						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CACATCCCAAGGACGTCAAGT	0.502000													8	128					0.000157383	0.000168956	1	1	0
RYR2	6262	broad.mit.edu	37	1	237823287	237823287	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:237823287G>C	ENST00000366574.2	+	55	8528	c.8211G>C	c.(8209-8211)ttG>ttC	p.L2737F	RYR2_ENST00000360064.6_Missense_Mutation_p.L2735F|RYR2_ENST00000542537.1_Missense_Mutation_p.L2721F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2737	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTAAGTTGGCAAATGGAT	0.303000													5	36					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106214273	106214273	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:106214273C>A	ENST00000369704.3	+	18	2738	c.2604C>A	c.(2602-2604)acC>acA	p.T868T		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	868										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCAGGTCAACCAAAATGACGT	0.458000													33	140					1.61788e-16	2.19526e-16	1	1	0
PLCXD1	55344	broad.mit.edu	37	X	215960	215960	+	Silent	SNP	C	C	T	rs140928586	byFrequency	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:215960C>T	ENST00000381657.2	+	7	1444	c.930C>T	c.(928-930)gtC>gtT	p.V310V	PLCXD1_ENST00000399012.1_Silent_p.V310V|PLCXD1_ENST00000381663.3_Silent_p.V310V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	310					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGGCTTCGTCAGTGACGTCA	0.642000													4	53					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97156917	97156917	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:97156917G>T	ENST00000287020.5	-	2	1341	c.1242C>A	c.(1240-1242)tcC>tcA	p.S414S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	414					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TGGGCGGGGTGGAGCCGGGGT	0.592000													6	46					5.18039e-06	5.854e-06	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157667045	157667045	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:157667045G>T	ENST00000368184.3	-	6	1020	c.729C>A	c.(727-729)ccC>ccA	p.P243P	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.P243P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	243	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGGAGTCTGGGGGACCTGC	0.557000													17	143					7.45023e-12	9.57511e-12	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97124033	97124033	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:97124033C>A	ENST00000389672.5	+	6	1684	c.1646C>A	c.(1645-1647)tCc>tAc	p.S549Y		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	454						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTGGGCATCCCAAAATAGC	0.413000													9	18					0.00448238	0.00468788	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133670108	133670108	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:133670108C>A	ENST00000310926.4	-	6	1078	c.805G>T	c.(805-807)Gtt>Ttt	p.V269F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V193F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	269					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAGGTGAGAACCAATAAAGCT	0.498000													23	109					1.87028e-06	2.13998e-06	1	1	0
GPR26	2849	broad.mit.edu	37	10	125426431	125426431	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:125426431G>T	ENST00000284674.1	+	1	561	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	170					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A170T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTGCGCTTCGCCGTCTTCAC	0.672000													7	25					0.00307968	0.00323012	1	1	0
GPR125	166647	broad.mit.edu	37	4	22422670	22422670	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:22422670T>G	ENST00000334304.5	-	12	1917	c.1648A>C	c.(1648-1650)Act>Cct	p.T550P	GPR125_ENST00000502482.1_Missense_Mutation_p.T550P|GPR125_ENST00000508133.1_Missense_Mutation_p.T324P|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	550					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGAAGCCAGTAGACTTGATG	0.458000													19	232					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86541421	86541421	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:86541421G>C	ENST00000450689.2	-	15	2321	c.2136C>G	c.(2134-2136)ttC>ttG	p.F712L	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F641L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F472L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F545L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	712						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TGAAGAAATGGAAGTATTTTG	0.413000													35	175					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	100007032	100007032	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:100007032C>T	ENST00000289371.5	+	17	2814	c.2612C>T	c.(2611-2613)aCc>aTc	p.T871I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	871					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGATGGGCACCACTATAGAT	0.408000													36	175					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223488432	223488432	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:223488432G>A	ENST00000281828.6	-	13	1451	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	FARSB_ENST00000536361.1_Silent_p.L297L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	396					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAAGTTCAGTGAGCTTATTAA	0.388000													24	158					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34380205	34380205	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr18:34380205T>C	ENST00000334295.4	-	5	879	c.452A>G	c.(451-453)aAt>aGt	p.N151S	TPGS2_ENST00000589049.1_Missense_Mutation_p.N151S|TPGS2_ENST00000593035.1_Missense_Mutation_p.N116S|TPGS2_ENST00000587129.1_Missense_Mutation_p.N151S|TPGS2_ENST00000590842.1_Missense_Mutation_p.N151S|TPGS2_ENST00000383056.3_Missense_Mutation_p.N108S|TPGS2_ENST00000590652.1_5'UTR	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	151						cytoplasm|microtubule											CCCACTGCCATTGCATGAATC	0.463000													46	219					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929566	94929566	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:94929566T>A	ENST00000337425.5	-	5	1246	c.1172A>T	c.(1171-1173)aAg>aTg	p.K391M	SERPINA9_ENST00000298845.7_Missense_Mutation_p.K291M|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K293M|SERPINA9_ENST00000424550.2_Missense_Mutation_p.K242M|SERPINA9_ENST00000380365.3_Missense_Mutation_p.K373M	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	373					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GACTATGAACTTGGTGGTGGT	0.502000													22	93					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42964020	42964020	+	Silent	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:42964020T>A	ENST00000426333.2	-	3	501	c.204A>T	c.(202-204)acA>acT	p.T68T	EFTUD2_ENST00000592576.1_Silent_p.T68T|EFTUD2_ENST00000591382.1_Silent_p.T68T|EFTUD2_ENST00000402521.3_Silent_p.T33T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	68						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCTCCTCGGCTGTTGGGTAGT	0.537000													18	117					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69045100	69045100	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:69045100T>C	ENST00000295381.3	+	8	1393	c.974T>C	c.(973-975)gTc>gCc	p.V325A	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V319A|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V326A|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V286A|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V319A|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V318A|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.V19A	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	325	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGTCGAAGGTCGAAGACCCT	0.468000													27	84					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79301123	79301123	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:79301123G>T	ENST00000264895.6	+	27	3976	c.3536G>T	c.(3535-3537)cGt>cTt	p.R1179L	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1179L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1178					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGAAAGTGCGTTTTGTGCAC	0.478000													28	173					1.75199e-13	2.30027e-13	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14537984	14537984	+	RNA	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:14537984G>C	ENST00000273083.3	-	0	2828							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGAGAGGCTCGTACCTCCCGG	0.642000													3	18					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561129	154561129	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:154561129G>A	ENST00000404039.1	+	9	1281	c.694G>A	c.(694-696)Gag>Aag	p.E232K	DPP6_ENST00000332007.3_Missense_Mutation_p.E234K|DPP6_ENST00000427557.1_Missense_Mutation_p.E189K|DPP6_ENST00000377770.3_Missense_Mutation_p.E296K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	296					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCCTTAGAGGAGATTTTGAA	0.512000													10	80					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													6	123					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145154031	145154031	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:145154031G>T	ENST00000558170.2	-	9	4199	c.3015C>A	c.(3013-3015)gaC>gaA	p.D1005E	ZEB2_ENST00000303660.4_Missense_Mutation_p.D1005E|ZEB2_ENST00000539609.3_Missense_Mutation_p.D981E|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1005E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1005						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAATGTCTTGTCACATAAGT	0.458000													52	341					1.72184e-34	2.54441e-34	1	1	0
OR8K3	219473	broad.mit.edu	37	11	56086537	56086537	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:56086537G>A	ENST00000312711.1	+	1	755	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTGTTCTATGGGACTTTGCTT	0.458000													22	82					0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32691889	32691889	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:32691889G>A	ENST00000373586.1	+	5	440	c.368G>A	c.(367-369)aGc>aAc	p.S123N	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	123						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TGCTTTGTGAGCTTTTTTGAC	0.542000													14	139					0	0	1	0	0
TAMM41	132001	broad.mit.edu	37	3	11858721	11858721	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:11858721C>T	ENST00000444133.2	-	5	795	c.653G>A	c.(652-654)aGc>aAc	p.S218N	TAMM41_ENST00000273037.5_Missense_Mutation_p.S218N|TAMM41_ENST00000455809.1_Missense_Mutation_p.S218N			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	218					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											CTGTAGTATGCTGCCATAGAG	0.408000													30	141					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463522	5463522	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:5463522G>T	ENST00000296564.7	+	13	4297	c.4075G>T	c.(4075-4077)Ggg>Tgg	p.G1359W		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1359										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACCGATGGTGGGGAAGAAGA	0.562000													5	45					0.014758	0.0151311	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20738061	20738061	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:20738061T>C	ENST00000404938.2	+	17	2694	c.2042T>C	c.(2041-2043)aTt>aCt	p.I681T	ABCB5_ENST00000258738.6_Missense_Mutation_p.I236T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	236	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTATTAAAAATTTTAAAGTTA	0.348000													11	66					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348721	124348721	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:124348721C>G	ENST00000368909.3	+	17	2151	c.2045C>G	c.(2044-2046)cCc>cGc	p.P682R	DMBT1_ENST00000368955.3_Missense_Mutation_p.P672R|DMBT1_ENST00000344338.3_Missense_Mutation_p.P672R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P682R|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	682	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGAGCTGCCCCAACAATGGC	0.567000													44	151					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118830720	118830720	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:118830720C>A	ENST00000378204.2	-	7	2392	c.1586G>T	c.(1585-1587)tGg>tTg	p.W529L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	529					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGTGGCAGGCCAGCGGTGTTT	0.507000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				47	202					6.3008e-33	9.27336e-33	1	1	0
TMEM202	338949	broad.mit.edu	37	15	72698974	72698974	+	Nonsense_Mutation	SNP	C	C	A	rs151215947		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:72698974C>A	ENST00000567679.1	+	2	131	c.113C>A	c.(112-114)tCa>tAa	p.S38*	TMEM202_ENST00000341689.3_Silent_p.L123L			A6NGA9	TM202_HUMAN	transmembrane protein 202	36						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTCTTTCTCATCTCTGTCT	0.468000													25	129					2.00529e-23	2.90449e-23	1	1	0
ADCY2	108	broad.mit.edu	37	5	7757671	7757671	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:7757671T>G	ENST00000338316.4	+	16	2155	c.2066T>G	c.(2065-2067)aTc>aGc	p.I689S	ADCY2_ENST00000537121.1_Missense_Mutation_p.I509S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	689					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCACAGCCATCATATTAATG	0.537000													15	145					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963137	73963137	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:73963137C>T	ENST00000373468.1	-	3	1906	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E419K			Q5QGS0	K2022_HUMAN	KIAA2022	419					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTAAGTTGCTCTACTTCAGTC	0.428000													72	126					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723779	140723779	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:140723779C>A	ENST00000253812.6	+	1	179	c.179C>A	c.(178-180)gCg>gAg	p.A60E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.A60V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGAGCTGGCGGAGCGCGGA	0.612000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	218					3.86903e-22	5.5818e-22	1	1	0
DNAJC1	64215	broad.mit.edu	37	10	22208795	22208795	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:22208795C>A	ENST00000376980.3	-	5	891	c.601G>T	c.(601-603)Gta>Tta	p.V201L		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	201					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGTTTTGATACATCCACACTC	0.294000													25	146					7.01153e-11	8.82486e-11	1	1	0
CERS5	91012	broad.mit.edu	37	12	50524465	50524465	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:50524465C>A	ENST00000317551.6	-	10	1166	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	CERS5_ENST00000422340.2_Missense_Mutation_p.D290Y	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	348					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCACTGCGATCATCCTTCGAT	0.512000													26	110					1.50538e-07	1.79563e-07	1	1	0
SMPD4	55627	broad.mit.edu	37	2	130910996	130910996	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:130910996T>A	ENST00000409031.1	-	18	3186	c.2038A>T	c.(2038-2040)Aca>Tca	p.T680S	SMPD4_ENST00000452225.2_Missense_Mutation_p.T421S|SMPD4_ENST00000453750.1_Missense_Mutation_p.T429S|SMPD4_ENST00000351288.6_Missense_Mutation_p.T651S|SMPD4_ENST00000339679.7_Missense_Mutation_p.T538S|SMPD4_ENST00000443958.2_Missense_Mutation_p.T344S|SMPD4_ENST00000426662.2_Missense_Mutation_p.T316S|SMPD4_ENST00000431183.2_Missense_Mutation_p.T578S	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	641					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AAGGCGAGTGTGAACTGCCTG	0.587000													21	87					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150719310	150719310	+	Missense_Mutation	SNP	C	C	A	rs144729952		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:150719310C>A	ENST00000344419.3	+	5	947	c.807C>A	c.(805-807)agC>agA	p.S269R	IYD_ENST00000229447.5_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	269					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GGTACCCCAGCAAGGAGGCCA	0.642000													18	113					1.33834e-09	1.65031e-09	1	1	0
FAM194A	131831	broad.mit.edu	37	3	150403558	150403558	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:150403558C>T	ENST00000295910.6	-	6	806	c.754G>A	c.(754-756)Gag>Aag	p.E252K	FAM194A_ENST00000491361.1_Missense_Mutation_p.E106K	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	252										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGGAGCTCTCTTCTTTGTAT	0.333000													20	80					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514222	70514222	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:70514222C>T	ENST00000377844.4	-	4	1723	c.964G>A	c.(964-966)Gat>Aat	p.D322N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D129N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	322					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTTGAGCATCTGCGAAGGCT	0.448000													11	49					0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17513653	17513653	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:17513653C>T	ENST00000281243.5	-	1	204	c.25G>A	c.(25-27)Gag>Aag	p.E9K	QDPR_ENST00000508623.1_Missense_Mutation_p.E9K|QDPR_ENST00000428702.2_Missense_Mutation_p.E9K|QDPR_ENST00000513615.1_Missense_Mutation_p.E9K	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	9					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CGGCGCGCCTCGCCTGCAGCC	0.761000													3	21					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5616188	5616188	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:5616188C>A	ENST00000252542.4	-	4	762	c.498G>T	c.(496-498)gtG>gtT	p.V166V		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCTGTGCAGCCACGTATTCTT	0.562000													6	102					2.0095e-06	2.28494e-06	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49654610	49654610	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:49654610C>T	ENST00000249601.4	-	10	2217	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E647K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E532K|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E474K|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E482K|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E551K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E657K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	641					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTCCAGTTCTTCTTCTAAC	0.502000													6	72					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38805050	38805050	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:38805050C>T	ENST00000449082.2	-	5	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	213					sensory perception	voltage-gated sodium channel complex		p.G213S(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCCGCAGGCCTGAGATCCCA	0.463000													9	147					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802137	11802137	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:11802137T>G	ENST00000306928.5	-	2	888	c.854A>C	c.(853-855)gAc>gCc	p.D285A		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	285					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCGGCGCACGTCTTTATGTCT	0.582000													30	183					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488857	20488857	+	RNA	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:20488857G>A	ENST00000555186.1	+	0	340					NR_038836.1																						TGTTGGGACTGCTGGGTATAA	0.443000													10	146					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40715916	40715916	+	RNA	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:40715916G>C	ENST00000604146.1	+	0	255					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCCCGGAGAAGACGTGGAAAG	0.572000													5	34					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687469	27687469	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:27687469C>A	ENST00000493901.1	-	15	2102	c.1863G>T	c.(1861-1863)acG>acT	p.T621T	MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000374040.3_Silent_p.T613T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716000													7	14					7.48243e-07	8.75348e-07	1	1	0
CCDC117	150275	broad.mit.edu	37	22	29177022	29177022	+	Translation_Start_Site	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr22:29177022A>T	ENST00000443309.2	+	0	221				CCDC117_ENST00000421503.2_Intron|CCDC117_ENST00000448492.2_Missense_Mutation_p.E91V|CCDC117_ENST00000249064.4_Missense_Mutation_p.E109V			Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117											breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CAGGATGTAGAGGGGCATGGA	0.418000													18	59					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810614	65810614	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:65810614G>T	ENST00000312006.4	-	3	941	c.660C>A	c.(658-660)gaC>gaA	p.D220E	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D220E	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	220					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGTAGGCGGCGTCGTCGCGCG	0.667000													9	91					0.000978159	0.00103787	1	1	0
TUBA4B	80086	broad.mit.edu	37	2	220136017	220136017	+	RNA	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:220136017T>C	ENST00000490341.1	+	0	487					NR_003063.1																						CAAGCTGGGATTCTCCATCTA	0.562000													9	116					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364344	5364344	+	Silent	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:5364344A>G	ENST00000300773.2	-	1	465	c.411T>C	c.(409-411)acT>acC	p.T137T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACTACTCGAGTATTAGTAA	0.458000													14	117					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791109	237791109	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:237791109A>T	ENST00000366574.2	+	41	6486	c.6169A>T	c.(6169-6171)Act>Tct	p.T2057S	RYR2_ENST00000360064.6_Missense_Mutation_p.T2055S|RYR2_ENST00000542537.1_Missense_Mutation_p.T2041S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2057	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTGCAGCCACTCTGCAGCA	0.443000													5	18					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7695895	7695895	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:7695895C>A	ENST00000338316.4	+	6	989	c.900C>A	c.(898-900)acC>acA	p.T300T	ADCY2_ENST00000537121.1_Silent_p.T120T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	300					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTGGCTTTACCCGGCTGGCAA	0.413000													15	65					3.41278e-10	4.25142e-10	1	1	0
DPRX	503834	broad.mit.edu	37	19	54135379	54135379	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:54135379C>A	ENST00000376650.1	+	1	70	c.19C>A	c.(19-21)Ctt>Att	p.L7I		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	7						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CTCAGAGGATCTTCGTAAAGG	0.512000													42	198					8.20599e-20	1.16092e-19	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157494103	157494103	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:157494103G>A	ENST00000361835.3	-	10	2362	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A	FCRL5_ENST00000368191.3_Silent_p.A650A|FCRL5_ENST00000368190.3_Silent_p.A735A|FCRL5_ENST00000356953.4_Silent_p.A735A	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	735	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CACTGCGCTGGGCCTCCAGAC	0.567000													33	88					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49419309	49419309	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:49419309C>G	ENST00000274813.3	-	6	1329	c.1202G>C	c.(1201-1203)aGt>aCt	p.S401T		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	401					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATTCGAGCACTTTTCACAGT	0.443000													21	137					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205220	66205220	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:66205220C>G	ENST00000503581.1	-	4	621	c.84G>C	c.(82-84)ttG>ttC	p.L28F	EYS_ENST00000370616.2_Missense_Mutation_p.L28F|EYS_ENST00000370618.3_Missense_Mutation_p.L28F|EYS_ENST00000342421.5_Missense_Mutation_p.L28F|EYS_ENST00000393380.2_Missense_Mutation_p.L28F|EYS_ENST00000370621.3_Missense_Mutation_p.L28F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	28					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCTTCCACCAATTGCCGTC	0.408000													16	193					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310431	26310431	+	Splice_Site	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:26310431G>A	ENST00000265944.5	+	8	751		c.e8-1		MYO3A_ENST00000543632.1_Splice_Site|MYO3A_ENST00000376302.1_Splice_Site	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTTCTACTAGGTGATTGCAT	0.403000													12	166					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300744	158300744	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:158300744C>A	ENST00000368168.3	-	2	277	c.170G>T	c.(169-171)gGc>gTc	p.G57V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	57					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCTATCCCAGCCATGAATCTG	0.488000													46	532					1.7489e-18	2.44579e-18	1	1	0
KANSL1	284058	broad.mit.edu	37	17	44116022	44116022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:44116022G>T	ENST00000262419.6	-	10	2893	c.2423C>A	c.(2422-2424)tCg>tAg	p.S808*	KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S745*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S808*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S102*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S808*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S808*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	808						MLL1 complex	protein binding										CAAGTAGCTCGAACTGCTCAT	0.517000													27	91					3.1745e-13	4.13818e-13	1	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478229	14478229	+	RNA	SNP	T	T	C	rs9956181	by1000genomes	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr18:14478229T>C	ENST00000581457.1	-	0	1679					NR_024076.1																						CCCATTCGACTTAGATTAGGG	0.478000													4	61					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32727861	32727861	+	Splice_Site	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:32727861G>T	ENST00000421745.2	+	48	9341		c.e48-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCATTTTTTAGGGCTCTCTTG	0.323000													6	51					0.0215528	0.0219742	1	1	0
FMO2	2327	broad.mit.edu	37	1	171173184	171173184	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:171173184G>A	ENST00000441535.1	+	6	925	c.808G>A	c.(808-810)Ggc>Agc	p.G270S	RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G270S|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	270					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAAATTATGGCCTTGAGCC	0.408000													21	95					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480201	73480201	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:73480201G>T	ENST00000523207.1	+	2	820	c.232G>T	c.(232-234)Gac>Tac	p.D78Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	78					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAAGTGTGCGACGACTATAA	0.522000													26	128					9.80776e-20	1.38217e-19	1	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125643933	125643933	+	RNA	SNP	A	A	G	rs73858994	by1000genomes	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:125643933A>G	ENST00000485843.1	+	0	457					NR_024251.1																						ACCCAGAGACATGCCAGCTGT	0.647000													6	125					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097070	69097070	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:69097070G>T	ENST00000332644.5	-	7	698	c.537C>A	c.(535-537)atC>atA	p.I179I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	179					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGCCAGTTATGATACTGTTGG	0.428000													14	84					1.3612e-06	1.57727e-06	1	1	0
OR10A6	390093	broad.mit.edu	37	11	7949931	7949931	+	Silent	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:7949931A>G	ENST00000309838.2	-	1	278	c.279T>C	c.(277-279)tcT>tcC	p.S93S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCCCCAAAAGAAATTGTAG	0.423000													26	240					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990486	21990486	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:21990486T>A	ENST00000594012.1	-	7	2849	c.2335A>T	c.(2335-2337)Act>Tct	p.T779S	ZNF43_ENST00000354959.4_Missense_Mutation_p.T785S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T779S|ZNF43_ENST00000595461.1_Missense_Mutation_p.T779S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTCTCCAGTATGAATTTTG	0.318000													21	69					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74733177	74733177	+	Silent	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:74733177G>C	ENST00000392485.2	-	1	238	c.66C>G	c.(64-66)acC>acG	p.T22T	MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_Intron|MFSD11_ENST00000591864.1_Intron|SRSF2_ENST00000508921.3_Silent_p.T22T|SRSF2_ENST00000359995.5_Silent_p.T22T	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	22	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						AGGTGCGGTAGGTCAGGTTGT	0.682000			Mis		"""MDS, CLL"""								5	22					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40765707	40765707	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:40765707C>T	ENST00000251413.3	+	7	711	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	217					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGCCACAGACCGCCTGCACAT	0.572000													43	196					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711354	155711354	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:155711354C>G	ENST00000295101.2	+	3	1512	c.1035C>G	c.(1033-1035)ttC>ttG	p.F345L	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	345					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACTCCCAGTTCCATGCAACAT	0.418000													33	126					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170632319	170632319	+	Silent	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:170632319C>G	ENST00000476287.1	+	3	1995	c.1887C>G	c.(1885-1887)gtC>gtG	p.V629V	FAM120B_ENST00000540480.1_Silent_p.V641V|FAM120B_ENST00000537664.1_Silent_p.V652V|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	629					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GACAGCGGGTCTACTCACTCT	0.488000													25	103					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34021900	34021900	+	Missense_Mutation	SNP	C	C	A	rs74315388		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:34021900C>A	ENST00000374372.1	-	4	1816	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Missense_Mutation_p.R438L			P43026	GDF5_HUMAN	growth differentiation factor 5	438			R -> L (in SYNS2 and SYM1; increased biologic activity when compared to wild- type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGGTGGGAGCGCAATGGGAA	0.607000													20	69					5.03518e-11	6.40363e-11	1	1	0
GRAMD4	23151	broad.mit.edu	37	22	47063993	47063993	+	Splice_Site	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr22:47063993G>T	ENST00000406902.1	+	11	1072	c.858_splice	c.e11-1	p.E287_splice	GRAMD4_ENST00000361034.3_Splice_Site_p.E287_splice			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	287					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTTACTGAAGGAACCTCCAAA	0.542000													8	46					1.12685e-05	1.2578e-05	1	1	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													9	43					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406934	2406934	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:2406934C>A	ENST00000381223.4	-	2	2030	c.1827G>T	c.(1825-1827)tgG>tgT	p.W609C	ZBED1_ENST00000381218.3_Missense_Mutation_p.W609C|RP11-325D5.3_ENST00000515319.1_RNA|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.W609C	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	609						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTCACGCACCAGTACTTCT	0.672000													26	207					3.1745e-13	4.13818e-13	1	1	0
CDCP2	200008	broad.mit.edu	37	1	54606915	54606915	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:54606915C>A	ENST00000371330.1	-	3	1466	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	207	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCAGGCCCCCCAAGCACAGCC	0.652000													5	79					0.014758	0.0151311	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28253485	28253485	+	Splice_Site	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:28253485G>C	ENST00000405948.2	+	3	973		c.e3+1		PGBD1_ENST00000259883.3_Splice_Site	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1						viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGTGAGTGGTGAGTGCTCG	0.527000													10	102					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998493	144998493	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:144998493C>A	ENST00000322810.4	-	31	6184	c.6015G>T	c.(6013-6015)cgG>cgT	p.R2005R	PLEC_ENST00000356346.3_Silent_p.R1854R|PLEC_ENST00000354589.3_Silent_p.R1868R|PLEC_ENST00000357649.2_Silent_p.R1872R|PLEC_ENST00000527096.1_Silent_p.R1891R|PLEC_ENST00000345136.3_Silent_p.R1868R|PLEC_ENST00000436759.2_Silent_p.R1895R|PLEC_ENST00000398774.2_Silent_p.R1836R|PLEC_ENST00000354958.2_Silent_p.R1846R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2005	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCGCCAGCCGCCGCAGGC	0.706000													4	22					0.150653	0.151483	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074619	106074619	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:106074619C>T	ENST00000278071.2	-	3	1643	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	ITPRIP_ENST00000337478.1_Silent_p.K397K|ITPRIP_ENST00000358187.2_Silent_p.K397K	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	397						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGGCAGTGCCTTTAGTGTCG	0.637000													11	91					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209521	50209521	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:50209521G>C	ENST00000392518.4	+	12	1566	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N	CPT1C_ENST00000323446.5_Missense_Mutation_p.K398N|CPT1C_ENST00000598293.1_Missense_Mutation_p.K398N|CPT1C_ENST00000405931.2_Missense_Mutation_p.K387N|CPT1C_ENST00000354199.5_Missense_Mutation_p.K398N	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	398					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CATCCCTGAAGACCCAGGCAG	0.711000													4	19					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167173	105167173	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:105167173G>A	ENST00000428173.2	+	18	2980	c.2677G>A	c.(2677-2679)Ggc>Agc	p.G893S	NRK_ENST00000243300.9_Missense_Mutation_p.G892S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	892							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CGAATGGGTAGGCTATAATGC	0.423000										HNSCC(51;0.14)			28	103					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959929	50959929	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:50959929C>A	ENST00000374103.4	-	6	778	c.693G>T	c.(691-693)atG>atT	p.M231I	OGDHL_ENST00000432695.1_Missense_Mutation_p.M22I|OGDHL_ENST00000419399.1_Missense_Mutation_p.M174I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	231					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGAGAACTGCATCACACCAG	0.597000													35	175					3.90053e-15	5.21499e-15	1	1	0
EP300	2033	broad.mit.edu	37	22	41548347	41548347	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr22:41548347G>T	ENST00000263253.7	+	16	4354	c.3135G>T	c.(3133-3135)aaG>aaT	p.K1045N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1045					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GACAGTCAAAGAAAAAGAGTG	0.483000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				10	38					7.48243e-07	8.75348e-07	1	1	0
KDELC2	143888	broad.mit.edu	37	11	108361748	108361748	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:108361748C>T	ENST00000434945.2	-	1	483	c.181G>A	c.(181-183)Gag>Aag	p.E61K	KDELC2_ENST00000375648.1_Missense_Mutation_p.E61K|KDELC2_ENST00000323468.5_Missense_Mutation_p.E117K			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	117						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGGACCTCTATCTTCAGG	0.413000													22	83					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371041	31371041	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:31371041G>T	ENST00000268296.4	+	6	572	c.451G>T	c.(451-453)Gac>Tac	p.D151Y	ITGAX_ENST00000562522.1_Missense_Mutation_p.D151Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	151					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACAGGAGCAGGACATTGTGTT	0.582000													18	97					6.94344e-10	8.59104e-10	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139793222	139793222	+	Splice_Site	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:139793222C>A	ENST00000303045.6	-	13	2044	c.1596_splice	c.e13-1	p.G533_splice	COL22A1_ENST00000435777.1_Splice_Site_p.G533_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	533	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCAGGGAACCCTAAAGCCA	0.527000										HNSCC(7;0.00092)			31	128					6.53348e-20	9.27906e-20	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861041	55861041	+	Silent	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:55861041A>G	ENST00000302124.2	+	1	289	c.258A>G	c.(256-258)caA>caG	p.Q86Q	OR8I2_ENST00000560768.1_Silent_p.Q86Q			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGAATTTCCAATCCAATCGGA	0.403000													40	273					0	0	1	0	0
PSMA7	5688	broad.mit.edu	37	20	60714213	60714213	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:60714213G>A	ENST00000370873.4	-	4	515	c.389C>T	c.(388-390)tCt>tTt	p.S130F	PSMA7_ENST00000370861.1_Missense_Mutation_p.S60F|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GATGAGGGCAGAGATGCCAAA	0.512000													10	141					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128577791	128577791	+	Splice_Site	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:128577791G>T	ENST00000335251.5	+	3	786	c.682_splice	c.e3-1	p.G228_splice	INTU_ENST00000296461.5_Splice_Site_p.G228_splice	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	228	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGTTTCAGGTGATGTCCTT	0.368000													22	96					3.10358e-05	3.44318e-05	1	1	0
OR11L1	391189	broad.mit.edu	37	1	248005122	248005122	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:248005122A>T	ENST00000355784.2	-	1	132	c.77T>A	c.(76-78)cTg>cAg	p.L26Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GACAAAGAGCAGGGCCTGCCA	0.498000													8	102					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576549	158576549	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:158576549G>T	ENST00000361284.1	+	1	321	c.321G>T	c.(319-321)tgG>tgT	p.W107C		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGCCTCATGGGCCTGTACTA	0.552000													47	218					5.34276e-22	7.67758e-22	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906572	164906572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:164906572G>A	ENST00000475390.1	-	2	2490	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R683*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	683						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGCTTCTTTCGACGCCTTCGG	0.537000										HNSCC(40;0.11)			12	63					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6749706	6749706	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:6749706G>A	ENST00000230859.6	+	9	1002	c.873G>A	c.(871-873)gtG>gtA	p.V291V		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	291					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCAGGAGGTGATTGACTACC	0.488000													47	305					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221328	5221328	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:5221328G>C	ENST00000321255.1	-	1	602	c.603C>G	c.(601-603)atC>atG	p.I201M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGAATCGGATGTCTGAAC	0.413000													11	115					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19031459	19031459	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:19031459G>A	ENST00000247003.4	+	2	253	c.186G>A	c.(184-186)caG>caA	p.Q62Q	DDX49_ENST00000438170.2_5'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	62	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CCATCTTGCAGAAGCTGTCTG	0.577000													11	116					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037637	75037637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:75037637C>A	ENST00000326665.5	-	14	3975	c.3757G>T	c.(3757-3759)Gga>Tga	p.G1253*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1253	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTCCAGTCCTGCGCAGGAG	0.587000													7	107					0.000157383	0.000168956	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100848	168100848	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:168100848C>T	ENST00000409195.1	+	9	3035	c.2946C>T	c.(2944-2946)ctC>ctT	p.L982L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L982L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L760L|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	807					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAAATCTCTCTTCGAGACAA	0.353000													24	125					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696978	222696978	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:222696978G>A	ENST00000343410.6	-	8	1922	c.1864C>T	c.(1864-1866)Cgg>Tgg	p.R622W	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	622					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AACGGGATCCGCTTACTCTTG	0.532000													29	177					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1963686	1963686	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:1963686G>T	ENST00000217305.2	-	3	270	c.45C>A	c.(43-45)ttC>ttA	p.F15L	PDYN_ENST00000540134.1_Missense_Mutation_p.F15L|PDYN_ENST00000539905.1_Missense_Mutation_p.F15L|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	15					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGTGGAGGGGAACATGAGGA	0.562000													9	52					1.12685e-05	1.2578e-05	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48769775	48769775	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:48769775T>C	ENST00000314191.2	-	50	6604	c.6548A>G	c.(6547-6549)tAc>tGc	p.Y2183C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2183C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2184					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AACCACCATGTAGTGAATTCC	0.453000								Non-homologous end-joining					12	46					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928217	15928217	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:15928217C>T	ENST00000504595.1	+	3	827	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	FBXL7_ENST00000510662.1_Missense_Mutation_p.R69W|FBXL7_ENST00000329673.7_Missense_Mutation_p.R104W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	116	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGCATAGACCGGCTCCCGGA	0.687000													6	18					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172437679	172437679	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:172437679G>T	ENST00000367727.4	+	7	695	c.497G>T	c.(496-498)aGa>aTa	p.R166I	C1orf105_ENST00000367725.4_Missense_Mutation_p.R156I|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	166										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTAAAAGAGAGACAACGTTCT	0.502000													61	332					1.44317e-28	2.09863e-28	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119301421	119301421	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:119301421C>T	ENST00000338891.7	-	10	2626	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	FAM184A_ENST00000352896.5_Missense_Mutation_p.R608Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.R728Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.R608Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	728								p.R728P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGCGTAAGCCGCTGTCGTTC	0.428000													14	98					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173730	126173730	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:126173730C>A	ENST00000339582.2	-	9	2514	c.1706G>T	c.(1705-1707)tGc>tTc	p.C569F	GRM8_ENST00000358373.3_Missense_Mutation_p.C569F|GRM8_ENST00000444921.2_Missense_Mutation_p.C569F|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	569					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GATAAGCTGGCAGCCTGTGCG	0.517000										HNSCC(24;0.065)			9	111					7.48243e-07	8.75348e-07	1	1	0
KLK5	25818	broad.mit.edu	37	19	51446941	51446941	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:51446941C>A	ENST00000336334.3	-	6	1180	c.828G>T	c.(826-828)acG>acT	p.T276T	KLK5_ENST00000593428.1_Silent_p.T276T|KLK5_ENST00000391809.2_Silent_p.T276T	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	276	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGCAGAGGTTCGTGTAGACAC	0.607000													24	132					2.39556e-15	3.21464e-15	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576961	33576961	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:33576961G>T	ENST00000504830.1	-	19	3505	c.3170C>A	c.(3169-3171)tCc>tAc	p.S1057Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S972Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1057	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCTTCTTTGGAGGCTGTGGT	0.562000										HNSCC(64;0.19)			37	95					6.29468e-14	8.32449e-14	1	1	0
SAFB2	9667	broad.mit.edu	37	19	5616187	5616187	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:5616187C>A	ENST00000252542.4	-	4	763	c.499G>T	c.(499-501)Gct>Tct	p.A167S		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGCTGTGCAGCCACGTATTCT	0.562000													6	101					2.0095e-06	2.28494e-06	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47408699	47408699	+	Splice_Site	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:47408699G>A	ENST00000295454.3	+	8	1128	c.835_splice	c.e8-1	p.G279_splice	GABRB1_ENST00000538619.1_Splice_Site_p.G209_splice	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	279					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G279E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTTTCACAGGAATCACGACA	0.443000													21	109					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55176625	55176625	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:55176625C>T	ENST00000391736.1	+	8	1066	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	LILRB4_ENST00000391734.3_Missense_Mutation_p.H251Y|LILRB4_ENST00000270452.2_Missense_Mutation_p.H251Y|LILRB4_ENST00000430952.2_Missense_Mutation_p.H251Y|LILRB4_ENST00000391733.3_Missense_Mutation_p.H251Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	251						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCAGTCCCCCACAGTGGTGA	0.642000													3	11					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84560806	84560806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:84560806G>T	ENST00000262753.4	-	13	1573	c.1428C>A	c.(1426-1428)tgC>tgA	p.C476*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.C476*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	476							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCCTCAGTCTGCAGATCTCTC	0.408000													28	60					3.73148e-12	4.81268e-12	1	1	0
FOXL1	2300	broad.mit.edu	37	16	86612659	86612659	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:86612659G>T	ENST00000320241.3	+	1	545	c.330G>T	c.(328-330)gtG>gtT	p.V110V		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	110					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCGTCAAGGTGCCCCGCGAGA	0.632000													37	164					6.2361e-21	8.89132e-21	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149420975	149420975	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:149420975C>G	ENST00000255992.10	+	8	1322	c.923C>G	c.(922-924)tCt>tGt	p.S308C	KRBA1_ENST00000485033.2_Missense_Mutation_p.S308C|KRBA1_ENST00000319551.8_Missense_Mutation_p.S308C|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	308										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAAAGGGGTTCTGGAGGTAAA	0.627000													10	78					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549049	158549049	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:158549049A>G	ENST00000368150.1	-	1	640	c.641T>C	c.(640-642)aTt>aCt	p.I214T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAGTGTTATAATGAATTCTGT	0.443000													23	121					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24532000	24532000	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:24532000G>C	ENST00000342740.5	+	29	2805	c.2651G>C	c.(2650-2652)cGa>cCa	p.R884P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	884										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCCCGGGGCCGAGGCCGGAAC	0.637000													5	81					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155292200	155292200	+	Silent	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:155292200C>G	ENST00000368352.5	+	2	787	c.636C>G	c.(634-636)ctC>ctG	p.L212L	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Silent_p.L212L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	212						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCTGAGCTCTTAGAGGCGG	0.532000													20	126					0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68725551	68725551	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:68725551G>T	ENST00000252338.4	+	1	468	c.426G>T	c.(424-426)ggG>ggT	p.G142G		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	142						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						AGCCCACGGGGCTGGACGCAG	0.692000													4	25					0.184627	0.185135	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26818980	26818980	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:26818980C>G	ENST00000381340.3	-	14	1830	c.1414G>C	c.(1414-1416)Gta>Cta	p.V472L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	472					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATTTGGTTACAAACCTATTA	0.338000													5	65					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46196139	46196139	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:46196139G>T	ENST00000393405.2	+	6	658	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	SNX11_ENST00000359238.2_Missense_Mutation_p.G102C|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000582104.1_Missense_Mutation_p.G94C|SNX11_ENST00000580219.1_Missense_Mutation_p.G94C|SNX11_ENST00000439357.2_Missense_Mutation_p.G41C	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	102	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCGACGACAAGGTCTGCAGCA	0.552000													17	99					1.99824e-07	2.37575e-07	1	1	0
SNAI2	6591	broad.mit.edu	37	8	49832598	49832598	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:49832598C>T	ENST00000396822.1	-	3	839	c.482G>A	c.(481-483)tGt>tAt	p.C161Y	SNAI2_ENST00000020945.1_Missense_Mutation_p.C161Y			O43623	SNAI2_HUMAN	snail family zinc finger 2	161					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACAGTATTTACAGCTGAAAGA	0.453000													19	150					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064686	128064686	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:128064686A>G	ENST00000470056.1	+	3	770	c.610A>G	c.(610-612)Att>Gtt	p.I204V	GAPVD1_ENST00000297933.6_Missense_Mutation_p.I204V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.I204V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.I204V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.I204V|GAPVD1_ENST00000495955.1_Missense_Mutation_p.I204V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.I204V|GAPVD1_ENST00000394084.1_Missense_Mutation_p.I204V|GAPVD1_ENST00000394105.2_Missense_Mutation_p.I204V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	204	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACATGAGCCAATTATGCAACT	0.403000													21	68					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873896	91873896	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:91873896C>G	ENST00000373094.1	+	7	4846	c.4001C>G	c.(4000-4002)cCg>cGg	p.P1334R	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1316R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1297R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1326R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1297R|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1324R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1334					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1334L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGGCCAGACCGTCCAGAGGT	0.378000													47	107					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144449127	144449127	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:144449127G>T	ENST00000283131.3	+	7	1370	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	303	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTTAATTGGAGATACTTAGTA	0.303000													13	93					7.03913e-09	8.56427e-09	1	1	0
STARD7	56910	broad.mit.edu	37	2	96853021	96853021	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:96853021G>A	ENST00000337288.5	-	7	1245	c.862C>T	c.(862-864)Cta>Tta	p.L288L	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	288	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTGTATGTTAGTAAGTAGTCA	0.423000													19	83					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008979	120008979	+	Silent	SNP	T	T	C	rs871733	by1000genomes	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:120008979T>C	ENST00000371311.3	-	1	800	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	182										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGCCTTCTGGGGCTGCAG	0.711000													5	47					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109584	101109584	+	Silent	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:101109584T>C	ENST00000314742.8	-	7	2355	c.2133A>G	c.(2131-2133)agA>agG	p.R711R		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	711										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						ATTTTACTATTCTGTAAAATA	0.378000													47	261					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160189179	160189179	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:160189179T>A	ENST00000392783.2	-	34	6310	c.5815A>T	c.(5815-5817)Aag>Tag	p.K1939*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.K1903*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.K1905*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.K1839*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTATCTCCCTTTCGACAGATT	0.373000													27	132					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122845618	122845618	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:122845618C>T	ENST00000358808.2	-	5	1047	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	CLIP1_ENST00000302528.7_Missense_Mutation_p.R298Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.R298Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.R298Q|CLIP1_ENST00000545889.1_5'UTR|CLIP1_ENST00000540338.1_Missense_Mutation_p.R298Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	298					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGCCATCACTCGCCTCACTGC	0.582000													24	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437833	179437833	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:179437833G>T	ENST00000589042.1	-	326	73250	c.73026C>A	c.(73024-73026)atC>atA	p.I24342I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I21774I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.I22701I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.I15469I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.I15277I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I15402I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22701	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCCAAGCGATTGAAATGG	0.453000													14	69					7.93312e-07	9.22162e-07	1	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36936704	36936704	+	Splice_Site	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:36936704C>G	ENST00000269554.3	-	4	988		c.e4+1		PIP4K2B_ENST00000311500.6_Splice_Site	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta						cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACTCACCATACCTGGTGGTAT	0.562000													25	101					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109120443	109120443	+	Splice_Site	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:109120443A>T	ENST00000261483.4	+	10	2629		c.e10-1			NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1						mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTATGCAATTAGGGCTGCTGA	0.299000													16	62					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49938120	49938120	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:49938120C>A	ENST00000221485.3	-	4	625	c.454G>T	c.(454-456)Gtg>Ttg	p.V152L	SLC17A7_ENST00000600601.1_Missense_Mutation_p.V85L|SLC17A7_ENST00000543531.1_Missense_Mutation_p.V140L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	152					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GATGTTGCCACAATAGCAAAG	0.532000													8	34					0.000157383	0.000168956	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531307	140531307	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:140531307C>A	ENST00000231136.1	+	1	1469	c.1469C>A	c.(1468-1470)cCg>cAg	p.P490Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P354Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		490	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCTGCTGCCGCCCCAGGAC	0.657000													38	238					3.78316e-11	4.82816e-11	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561779	11561779	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:11561779G>A	ENST00000294484.6	+	2	868	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A244T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	244					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCAGTCGCGGCCAATCAGAG	0.677000													4	16					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57722927	57722927	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:57722927G>A	ENST00000263095.6	+	4	876	c.462G>A	c.(460-462)atG>atA	p.M154I	ZNF264_ENST00000536056.1_Missense_Mutation_p.M154I	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CTGGGAAGATGAGCCCTGAAT	0.512000													20	74					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89836281	89836281	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:89836281A>G	ENST00000310775.7	+	22	2364	c.2278A>G	c.(2278-2280)Ata>Gta	p.I760V	FANCI_ENST00000300027.8_Missense_Mutation_p.I760V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	760					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAATTTCTCCATAAGTAGTTT	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	72					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169345899	169345899	+	Silent	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:169345899A>T	ENST00000367808.3	+	3	573	c.150A>T	c.(148-150)ccA>ccT	p.P50P	BLZF1_ENST00000367807.3_Silent_p.P50P|BLZF1_ENST00000329281.2_Silent_p.P50P			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	50					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TTCAGAGTCCATGGAAGAAAG	0.438000													29	141					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260213	90260213	+	RNA	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:90260213G>T	ENST00000471857.1	+	0	497																											TGAAGATTTTGCAACTTATTA	0.493000													31	243					1.22384e-17	1.67932e-17	1	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140615861	140615861	+	RNA	SNP	G	G	A	rs6871453	by1000genomes	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:140615861G>A	ENST00000526308.1	+	0	1924					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGTACCTCGGGCGGCCGAGCC	0.701000													9	118					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140743927	140743927	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:140743927C>T	ENST00000518069.1	+	1	30	c.30C>T	c.(28-30)tgC>tgT	p.C10C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCTGCGGAGAGCTGC	0.577000													4	50					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687653	27687653	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:27687653T>G	ENST00000438700.3	-	4	1991	c.1874A>C	c.(1873-1875)gAa>gCa	p.E625A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	625					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTCTAAACCTTCCTGCACATG	0.383000													8	129					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986940	7986940	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:7986940G>T	ENST00000221573.6	+	4	444	c.393G>T	c.(391-393)acG>acT	p.T131T	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	131					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCGCGGCCACGGAACCGGTCA	0.647000													14	244					4.7546e-09	5.82359e-09	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108642078	108642078	+	Silent	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:108642078G>C	ENST00000332082.4	+	10	2474	c.1656G>C	c.(1654-1656)ggG>ggC	p.G552G	WSCD2_ENST00000549903.1_Silent_p.G572G|WSCD2_ENST00000261400.3_Silent_p.G572G|WSCD2_ENST00000547525.1_Silent_p.G552G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	552						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCCTCAAAGGGCGGAACCTAA	0.592000													16	66					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9263815	9263815	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr18:9263815C>T	ENST00000383440.2	+	9	5880	c.5623C>T	c.(5623-5625)Cca>Tca	p.P1875S	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1875S|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1898S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1898						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACTGTCAGATCCACTTAAAGA	0.289000													15	104					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641073	156641073	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:156641073C>G	ENST00000368223.3	-	4	3039	c.2907G>C	c.(2905-2907)atG>atC	p.M969I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	969	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACTCCAGCCATCCCAGGAG	0.577000													79	424					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421300	89421300	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:89421300C>T	ENST00000359595.3	-	5	1198	c.984G>A	c.(982-984)ccG>ccA	p.P328P	HAPLN3_ENST00000562889.1_Silent_p.P390P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	328	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTAGGATGCGGGTGAACCA	0.642000													19	133					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361357	105361357	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:105361357G>T	ENST00000297581.2	+	2	626	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.V193F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	193					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CAAAGGGGAAGTCCTGAGCGT	0.527000													34	204					9.04072e-19	1.26918e-18	1	1	0
IDH3B	3420	broad.mit.edu	37	20	2644634	2644634	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:2644634C>A	ENST00000380843.4	-	2	84	c.54G>T	c.(52-54)ggG>ggT	p.G18G	IDH3B_ENST00000380851.5_Silent_p.G18G|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	18					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCCCAGGGTTCCCGGCGGAGA	0.607000													13	46					3.45872e-05	3.82555e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237617787	237617787	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:237617787C>A	ENST00000366574.2	+	15	1706	c.1389C>A	c.(1387-1389)ttC>ttA	p.F463L	RYR2_ENST00000360064.6_Missense_Mutation_p.F461L|RYR2_ENST00000542537.1_Missense_Mutation_p.F447L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	463					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGCTACTTCCACCCCCCAG	0.488000													12	70					6.40141e-05	6.99555e-05	1	1	0
CYP26B1	56603	broad.mit.edu	37	2	72360228	72360228	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:72360228A>T	ENST00000001146.2	-	5	1273	c.1070T>A	c.(1069-1071)gTc>gAc	p.V357D	CYP26B1_ENST00000546307.1_Missense_Mutation_p.V282D|CYP26B1_ENST00000412253.1_Missense_Mutation_p.V166D	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	357					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTCCTTGATGACGCAGTCCAG	0.662000													9	79					0	0	1	0	0
C12orf5	57103	broad.mit.edu	37	12	4461796	4461796	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:4461796C>T	ENST00000179259.4	+	6	819	c.752C>T	c.(751-753)aCg>aTg	p.T251M		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	251						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTTAAACCAACGGTTCAGTGT	0.403000													21	111					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63486245	63486245	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:63486245G>A	ENST00000377819.5	+	3	425	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	RTN3_ENST00000339997.4_Missense_Mutation_p.E72K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	91					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTCATCTTCTGAAATACATAA	0.373000													6	45					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101093	92101093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:92101093C>T	ENST00000377067.3	+	2	614	c.242C>T	c.(241-243)gCt>gTt	p.A81V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	81						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGATTGCGGCTCGCCAGGAT	0.428000													19	144					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30537715	30537715	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:30537715G>T	ENST00000380412.5	-	1	195	c.20C>A	c.(19-21)cCg>cAg	p.P7Q	ZNF747_ENST00000569360.1_Intron|ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000535210.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	7					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAGGCCCCACGGCAACGCCTC	0.731000													9	42					6.40141e-05	6.99555e-05	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900660	51900660	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:51900660C>G	ENST00000268919.4	+	1	422	c.266C>G	c.(265-267)cCc>cGc	p.P89R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	89					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTGAACACCCCATGCCGCCC	0.582000													63	230					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158626933	158626933	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:158626933A>G	ENST00000263640.3	-	7	1166	c.737T>C	c.(736-738)tTc>tCc	p.F246S	ACVR1_ENST00000409283.2_Missense_Mutation_p.F246S|ACVR1_ENST00000410057.2_Missense_Mutation_p.F246S|ACVR1_ENST00000434821.1_Missense_Mutation_p.F246S	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	246	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CGTTTCCCTGAACCATGACTT	0.468000													24	298					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437914	179437914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:179437914G>T	ENST00000589042.1	-	326	73169	c.72945C>A	c.(72943-72945)taC>taA	p.Y24315*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y21747*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y22674*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y15442*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y15250*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y15375*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22674	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAAGCCTTGTAAAATGGAC	0.428000													26	119					9.57634e-11	1.20116e-10	1	1	0
MUC6	4588	broad.mit.edu	37	11	1023950	1023950	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:1023950A>T	ENST00000421673.2	-	25	3429	c.3379T>A	c.(3379-3381)Tgc>Agc	p.C1127S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1127					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACTCACGGCAGAAGGCCGGG	0.692000													4	27					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128184707	128184707	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:128184707G>C	ENST00000453608.2	+	7	878	c.870G>C	c.(868-870)aaG>aaC	p.K290N	PROC_ENST00000422777.3_Missense_Mutation_p.K235N|PROC_ENST00000409048.1_Missense_Mutation_p.K269N|PROC_ENST00000234071.3_Missense_Mutation_p.K235N			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	235	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAAAGAAGAAGCTGGCCTGCG	0.602000													30	254					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504408	70504408	+	Silent	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:70504408A>G	ENST00000310961.5	+	22	3220	c.2802A>G	c.(2800-2802)acA>acG	p.T934T	LRRC7_ENST00000415775.2_Silent_p.T213T|LRRC7_ENST00000035383.5_Silent_p.T929T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	929						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAAAAGCACAGAGAGGCTTT	0.373000													21	94					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32735176	32735176	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:32735176G>T	ENST00000427716.2	+	4	799	c.375G>T	c.(373-375)acG>acT	p.T125T	FGD4_ENST00000525053.1_Silent_p.T237T|FGD4_ENST00000534526.2_Silent_p.T262T|FGD4_ENST00000546442.1_Silent_p.T32T|FGD4_ENST00000472289.1_Silent_p.T125T|FGD4_ENST00000531134.1_Silent_p.T210T|FGD4_ENST00000266482.3_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	125	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.T125T(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGCTTGATACGCACATAGTGA	0.468000													35	160					2.23313e-29	3.27346e-29	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964661	88964661	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:88964661G>A	ENST00000333190.4	+	4	2974	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	789						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAATTGTGGGAATCATTTAA	0.358000										HNSCC(36;0.09)			18	78					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094357	77094357	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:77094357G>A	ENST00000328299.3	+	5	932	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	262					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGGAAGAGATGAGTGTGATGA	0.368000													6	124					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55909083	55909083	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:55909083C>G	ENST00000290567.9	-	1	172	c.51G>C	c.(49-51)tgG>tgC	p.W17C	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.W17C|CES5A_ENST00000520435.1_Missense_Mutation_p.W17C|CES5A_ENST00000521992.1_Intron|CES5A_ENST00000518005.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	17						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGCAAGGACCCAGATAGCCC	0.537000													24	141					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000													41	336					1.96642e-18	2.73948e-18	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155345	22155345	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:22155345T>G	ENST00000397126.4	-	4	2639	c.2491A>C	c.(2491-2493)Aag>Cag	p.K831Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGTAGGGCTTTTCTCCAGCA	0.368000													20	125					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106320	55106320	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:55106320C>T	ENST00000453777.1	+	4	431	c.261C>T	c.(259-261)tcC>tcT	p.S87S	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.S87S|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	87	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCATCCCATCCATCACCTGGG	0.562000													21	185					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55908017	55908017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:55908017C>A	ENST00000447944.2	-	6	576	c.490G>T	c.(490-492)Gag>Tag	p.E164*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	164					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATCAGGCTCATTTACACCA	0.313000													21	91					1.55469e-16	2.1174e-16	1	1	0
CUBN	8029	broad.mit.edu	37	10	17153050	17153050	+	Splice_Site	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:17153050C>T	ENST00000377833.4	-	9	949		c.e9-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTTGCCAGCCTAGGAAAACA	0.398000													13	108					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651314	207651314	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:207651314T>C	ENST00000367057.3	+	16	3176	c.2987T>C	c.(2986-2988)gTa>gCa	p.V996A	CR2_ENST00000367059.3_Missense_Mutation_p.V875A|CR2_ENST00000367058.3_Missense_Mutation_p.V937A|CR2_ENST00000458541.2_Missense_Mutation_p.V910A	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	937					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGCTGTTGTAACTCTGGAG	0.483000													16	60					0	0	1	0	0
RUSC1-AS1	284618	broad.mit.edu	37	1	155290502	155290502	+	RNA	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:155290502C>T	ENST00000446880.1	-	0	410				RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA			Q66K80	RUAS1_HUMAN																			CTGGCTCTTTCCAGAATGTGC	0.542000													7	37					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176673678	176673678	+	Splice_Site	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:176673678G>T	ENST00000439151.2	+	10	4423		c.e10-1		NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000354179.4_Splice_Site|NSD1_ENST00000361032.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCTGTCATAGGCACTACCAA	0.373000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	81					1.58986e-06	1.82484e-06	1	1	0
OR8K3	219473	broad.mit.edu	37	11	56086536	56086536	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:56086536G>A	ENST00000312711.1	+	1	754	c.754G>A	c.(754-756)Ggg>Agg	p.G252R		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AGTGTTCTATGGGACTTTGCT	0.463000													23	83					0	0	1	0	0
ZNF524	147807	broad.mit.edu	37	19	56114233	56114233	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:56114233A>T	ENST00000591046.1	+	1	989	c.755A>T	c.(754-756)gAg>gTg	p.E252V	ZNF524_ENST00000301073.3_Missense_Mutation_p.E252V			Q96C55	ZN524_HUMAN	zinc finger protein 524	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCAGGGGCCGAGGAGGAGGAG	0.687000													4	13					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6385119	6385119	+	Silent	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:6385119A>G	ENST00000325203.5	-	3	997	c.523T>C	c.(523-525)Ttg>Ctg	p.L175L	ANGPT2_ENST00000338312.6_Silent_p.L123L|ANGPT2_ENST00000415216.1_Silent_p.L175L|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Silent_p.L175L			O15123	ANGP2_HUMAN	angiopoietin 2	175					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTCTGGTCCAAAATCTGTTTT	0.343000													12	54					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025241	2025241	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:2025241C>T	ENST00000568546.1	+	8	817	c.689C>T	c.(688-690)aCg>aTg	p.T230M		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	230					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGCCAGGCCACGAGGACCGTG	0.602000													32	182					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32302421	32302421	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr22:32302421G>T	ENST00000266091.3	+	42	4826	c.4684G>T	c.(4684-4686)Gac>Tac	p.D1562Y	DEPDC5_ENST00000400246.1_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D1575Y|DEPDC5_ENST00000382111.2_3'UTR|DEPDC5_ENST00000539165.1_Missense_Mutation_p.D401Y|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D1553Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D1484Y|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D1553Y			O75140	DEPD5_HUMAN	DEP domain containing 5	1553					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATCAACCGTGACAACCGGCT	0.587000													59	263					1.22119e-34	1.81193e-34	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553755	19553755	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:19553755C>T	ENST00000409832.3	+	1	391	c.339C>T	c.(337-339)ggC>ggT	p.G113G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGGAGCGGCAAGAGCAAAG	0.597000													115	565					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799981	159799981	+	Splice_Site	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:159799981C>A	ENST00000289707.5	+	2	515	c.367_splice	c.e2+1	p.Y122_splice	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	122						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCAAGGTGTACGGTGAGTGTG	0.612000													9	46					0.00621372	0.00648002	1	1	0
THBS4	7060	broad.mit.edu	37	5	79351729	79351729	+	Silent	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:79351729C>G	ENST00000350881.2	+	3	604	c.414C>G	c.(412-414)gcC>gcG	p.A138A	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.A47A	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	138	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGCGAGGGGCCGGCTCCCTAG	0.577000													19	156					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25601841	25601841	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:25601841G>A	ENST00000232165.3	-	8	2612	c.1956C>T	c.(1954-1956)caC>caT	p.H652H	UBE3A_ENST00000428984.2_Silent_p.H632H|UBE3A_ENST00000438097.1_Silent_p.H632H|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.H632H|UBE3A_ENST00000397954.2_Silent_p.H655H	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	655					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.H655H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AACTTACTGGGTGAGAGTCTC	0.299000													45	282					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100376585	100376585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:100376585G>T	ENST00000262233.6	+	12	1385	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	EML1_ENST00000334192.4_Nonsense_Mutation_p.E435*|EML1_ENST00000327921.9_Nonsense_Mutation_p.E404*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	416						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACAGAAACAAGAAAAGCCAAA	0.313000													8	80					0.0477658	0.048295	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322191	55322191	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:55322191G>T	ENST00000314644.2	+	1	409	c.409G>T	c.(409-411)Gac>Tac	p.D137Y		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GATGATTGTAGACTCCCTCTA	0.493000										HNSCC(20;0.049)			29	263					2.85442e-18	3.96145e-18	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47426811	47426811	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:47426811G>A	ENST00000426342.1	-	9	1707	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	MDGA2_ENST00000399232.2_Missense_Mutation_p.R619W|MDGA2_ENST00000439988.2_Missense_Mutation_p.R550W|MDGA2_ENST00000357362.3_Missense_Mutation_p.R321W	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	550	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCCTTGCCGGATTTCCAAG	0.438000													16	101					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951288	10951288	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr21:10951288G>T	ENST00000298232.7	-	9	737	c.370C>A	c.(370-372)Ctt>Att	p.L124I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L104I|TPTE_ENST00000361285.4_Missense_Mutation_p.L142I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	142					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCGAAGAAGAACATCCATG	0.353000													14	173					9.31168e-06	1.04577e-05	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37044578	37044578	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:37044578T>C	ENST00000282516.8	+	35	6737	c.6238T>C	c.(6238-6240)Tat>Cat	p.Y2080H	NIPBL_ENST00000448238.2_Missense_Mutation_p.Y2080H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2080					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATCATCAAATATGGCATGAC	0.313000													30	148					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401724	10401724	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:10401724C>T	ENST00000397077.1	-	12	2183	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	ATP2B2_ENST00000383800.4_Silent_p.K536K|ATP2B2_ENST00000352432.4_Silent_p.K581K|ATP2B2_ENST00000343816.4_Silent_p.K567K|ATP2B2_ENST00000360273.2_Silent_p.K581K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	581					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTAGTCCTGCTTCAGGTCCA	0.612000													20	86					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73261994	73261994	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:73261994G>A	ENST00000579002.1	+	4	1221	c.806G>A	c.(805-807)cGc>cAc	p.R269H	MRPS7_ENST00000245539.6_Missense_Mutation_p.R240H			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	240					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GCCCACTACCGCTGGTGGTAG	0.577000													15	71					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334176	77334176	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:77334176G>A	ENST00000282849.5	-	17	3076	c.2658C>T	c.(2656-2658)tcC>tcT	p.S886S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	886					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CACAGGAGACGGAGCACTCTG	0.463000													19	86					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176673679	176673679	+	Splice_Site	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:176673679G>T	ENST00000439151.2	+	10	4424	c.4378_splice	c.e10-1	p.G1460_splice	NSD1_ENST00000347982.4_Splice_Site_p.G1191_splice|NSD1_ENST00000354179.4_Splice_Site_p.G1191_splice|NSD1_ENST00000361032.4_Splice_Site_p.G1357_splice	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1460					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGTCATAGGCACTACCAAG	0.373000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	79					1.58986e-06	1.82484e-06	1	1	0
PCM1	5108	broad.mit.edu	37	8	17823980	17823980	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:17823980G>C	ENST00000325083.8	+	20	3658	c.3219G>C	c.(3217-3219)caG>caC	p.Q1073H	PCM1_ENST00000524226.1_Missense_Mutation_p.Q1074H|PCM1_ENST00000519253.1_Missense_Mutation_p.Q1073H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1073					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATAATGTTCAGAGGTAATCTG	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								17	57					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758795	55758795	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:55758795C>A	ENST00000395863.3	-	4	1446	c.941G>T	c.(940-942)cGg>cTg	p.R314L	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R314L	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	314					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.R314Q(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTTGGCCATCCGCAGGGCTTC	0.642000													30	101					1.22384e-17	1.67932e-17	1	1	0
ADD3	120	broad.mit.edu	37	10	111860589	111860589	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:111860589C>G	ENST00000277900.8	+	2	543	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	ADD3_ENST00000356080.4_Missense_Mutation_p.Q60E|ADD3_ENST00000360162.3_Missense_Mutation_p.Q60E|ADD3_ENST00000497125.1_3'UTR	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	60				Q -> R (in Ref. 1; BAA23783).		cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACGAGTTACTCAGATCCTGCA	0.403000													7	64					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392725	89392725	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:89392725T>A	ENST00000439576.2	+	10	2163	c.1789T>A	c.(1789-1791)Ttc>Atc	p.F597I	ACAN_ENST00000559004.1_Missense_Mutation_p.F597I|ACAN_ENST00000352105.7_Missense_Mutation_p.F597I|ACAN_ENST00000558207.1_Missense_Mutation_p.F597I|ACAN_ENST00000561243.1_Missense_Mutation_p.F597I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	597					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCACTGGAGTTCTGTGAATC	0.632000													5	29					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168486	49168486	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:49168486T>C	ENST00000340334.7	-	20	2398	c.2030A>G	c.(2029-2031)tAt>tGt	p.Y677C	FOLH1_ENST00000533034.1_Missense_Mutation_p.Y646C|FOLH1_ENST00000356696.3_Missense_Mutation_p.Y661C|FOLH1_ENST00000256999.2_Missense_Mutation_p.Y692C|FOLH1_ENST00000343844.4_Missense_Mutation_p.Y384C	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	692					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GCTTGGAGCATAGATGACATG	0.428000													40	199					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65480056	65480056	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:65480056C>A	ENST00000519389.1	+	19	3492	c.3313C>A	c.(3313-3315)Cat>Aat	p.H1105N	HEPH_ENST00000441993.2_Missense_Mutation_p.H1054N|HEPH_ENST00000336279.5_Missense_Mutation_p.H784N|HEPH_ENST00000374727.3_Missense_Mutation_p.H1054N|HEPH_ENST00000343002.2_Missense_Mutation_p.H1051N|HEPH_ENST00000419594.1_Missense_Mutation_p.H862N			Q9BQS7	HEPH_HUMAN	hephaestin	1051					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGTGACTGACCATGTCCATGC	0.502000													12	41					6.40141e-05	6.99555e-05	1	1	0
NOS1	4842	broad.mit.edu	37	12	117718552	117718552	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:117718552G>A	ENST00000317775.6	-	8	2187	c.1502C>T	c.(1501-1503)cCa>cTa	p.P501L	NOS1_ENST00000338101.4_Missense_Mutation_p.P501L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	501					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACATTGGCTGGGTCCCCCAG	0.607000													6	100					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211592	17211592	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:17211592A>T	ENST00000261381.6	-	11	2552	c.2468T>A	c.(2467-2469)gTg>gAg	p.V823E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	823					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGAATTTTCACTGTCCAGAC	0.547000													16	98					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8053356	8053356	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:8053356C>A	ENST00000317276.4	-	4	699	c.462G>T	c.(460-462)cgG>cgT	p.R154R	PER1_ENST00000581082.1_Silent_p.R154R|PER1_ENST00000354903.5_Silent_p.R138R	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	154					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCCTTGCCCCGGCGCTCTG	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					88	189					2.32385e-29	3.39282e-29	1	1	0
PHLDB3	653583	broad.mit.edu	37	19	44008064	44008064	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:44008064G>A	ENST00000292140.5	-	2	567	c.207C>T	c.(205-207)cgC>cgT	p.R69R	PHLDB3_ENST00000599242.1_Silent_p.R69R	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	69										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCACCGCGTCGCGGCTGCTCT	0.657000													10	52					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761748	55761748	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:55761748C>T	ENST00000278409.1	-	1	353	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGTCATAGGCCATTAACCCAA	0.488000													29	150					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824152	54824152	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:54824152A>T	ENST00000243911.2	+	1	365	c.253A>T	c.(253-255)Atg>Ttg	p.M85L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GGTGGCCGACATGCTGGTAAG	0.557000													22	72					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352614	20352614	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:20352614C>T	ENST00000396134.2	-	8	1598	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	UMOD_ENST00000302509.4_Missense_Mutation_p.R459Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R492Q|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.R508Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R459Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R459Q	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	459	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAGCGCCATCCGCACGGTGAA	0.592000													9	82					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308753	20308753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:20308753G>T	ENST00000335117.8	+	4	1291	c.1234G>T	c.(1234-1236)Ggc>Tgc	p.G412C	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGAAGAATGTGGCAAAGCGTA	0.393000													8	67					0.0381472	0.0387848	1	1	0
BMP1	649	broad.mit.edu	37	8	22054229	22054229	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:22054229C>G	ENST00000306385.5	+	14	2472	c.1802C>G	c.(1801-1803)tCc>tGc	p.S601C	BMP1_ENST00000306349.8_Missense_Mutation_p.S601C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.S601C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	601	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTCAACGGCTCCATCACCAGC	0.642000													12	68					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776665	144776665	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:144776665C>T	ENST00000532205.1	+	8	1980	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	ZNF707_ENST00000454097.1_Missense_Mutation_p.R361W|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361W|ZNF707_ENST00000418203.2_Missense_Mutation_p.R361W|ZNF707_ENST00000358656.4_Missense_Mutation_p.R361W			Q96C28	ZN707_HUMAN	zinc finger protein 707	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTTCTTCACGCGGCATCAGAG	0.647000													6	25					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543460	182543460	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:182543460A>C	ENST00000295108.3	-	2	585	c.128T>G	c.(127-129)cTc>cGc	p.L43R	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	43					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CATGGTTTCGAGGTCGTCCTC	0.582000													9	35					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051843	132051843	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:132051843C>A	ENST00000286355.5	-	1	2829	c.737G>T	c.(736-738)gGc>gTc	p.G246V	ADCY8_ENST00000377928.3_Missense_Mutation_p.G246V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	246					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTGACCACGCCGCTGTACTG	0.637000										HNSCC(32;0.087)			15	35					0.000308642	0.000329399	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46549546	46549546	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:46549546C>T	ENST00000242848.4	-	12	2688	c.2340G>A	c.(2338-2340)agG>agA	p.R780R	ZC3H13_ENST00000282007.3_Silent_p.R780R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	780	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTTCTTTAtccctttctctcg	0.502000													22	239					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168439	49168439	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:49168439T>G	ENST00000340334.7	-	20	2445	c.2077A>C	c.(2077-2079)Att>Ctt	p.I693L	FOLH1_ENST00000533034.1_Missense_Mutation_p.I662L|FOLH1_ENST00000356696.3_Missense_Mutation_p.I677L|FOLH1_ENST00000256999.2_Missense_Mutation_p.I708L|FOLH1_ENST00000343844.4_Missense_Mutation_p.I400L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	708					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GCATCATAAATTCCTGGGAAT	0.453000													38	208					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799980	159799980	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:159799980A>T	ENST00000289707.5	+	2	514	c.365A>T	c.(364-366)tAc>tTc	p.Y122F	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	122						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTCAAGGTGTACGGTGAGTGT	0.617000													8	47					0	0	1	0	0
IFI35	3430	broad.mit.edu	37	17	41158969	41158969	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:41158969C>T	ENST00000415816.2	+	1	228	c.5C>T	c.(4-6)tCa>tTa	p.S2L	IFI35_ENST00000536969.1_3'UTR|IFI35_ENST00000438323.2_Missense_Mutation_p.S2L	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	2					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AGACCCATGTCAGCCCCACTG	0.557000													34	171					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19612601	19612601	+	Silent	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:19612601A>G	ENST00000507958.1	-	8	1743	c.753T>C	c.(751-753)tcT>tcC	p.S251S	CDH18_ENST00000274170.4_Silent_p.S251S|CDH18_ENST00000502796.1_Silent_p.S251S|CDH18_ENST00000506372.1_Silent_p.S251S|CDH18_ENST00000511273.1_Silent_p.S251S|CDH18_ENST00000382275.1_Silent_p.S251S			Q13634	CAD18_HUMAN	cadherin 18, type 2	251	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGACTGTTGTAGATCCTGAAA	0.428000													26	83					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832764	130832764	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:130832764T>G	ENST00000357462.5	-	15	2374	c.2281A>C	c.(2281-2283)Aaa>Caa	p.K761Q	POTEF_ENST00000409914.2_Missense_Mutation_p.K761Q			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	761	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGCCTCTTTTGCTCTGGGCC	0.582000													32	219					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73535281	73535281	+	Silent	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:73535281C>G	ENST00000418310.1	+	15	1875	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	LIMK1_ENST00000336180.2_Silent_p.L561L|LIMK1_ENST00000538333.3_Silent_p.L527L			P53667	LIMK1_HUMAN	LIM domain kinase 1	561	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACTTTGGCCTCAACGTGCGAG	0.637000													41	251					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50782020	50782020	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:50782020G>C	ENST00000433963.1	+	14	2413	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	USP8_ENST00000307179.4_Missense_Mutation_p.R638T|USP8_ENST00000425032.3_Missense_Mutation_p.R532T|USP8_ENST00000396444.3_Missense_Mutation_p.R638T	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	638					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCTTTGACAAGAGCACGAAGT	0.323000													8	59					0	0	1	0	0
MIF4GD	57409	broad.mit.edu	37	17	73265464	73265464	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:73265464G>A	ENST00000577542.1	-	3	431	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	MIF4GD_ENST00000245551.5_Missense_Mutation_p.R50C|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R57C|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000579119.1_Intron			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	27	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GGCATCAGGCGAGAGCAATTA	0.502000													25	208					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882070	228882070	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:228882070G>C	ENST00000392056.3	-	7	3546	c.3500C>G	c.(3499-3501)gCg>gGg	p.A1167G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1167G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1167						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTCCGGCACGCCTGTTGCAT	0.517000													13	109					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24418414	24418414	+	Silent	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:24418414T>C	ENST00000378386.3	+	8	1032	c.939T>C	c.(937-939)ctT>ctC	p.L313L	MRS2_ENST00000535061.1_Silent_p.L263L|MRS2_ENST00000543597.1_Silent_p.L22L|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Silent_p.L316L|MRS2_ENST00000378353.1_Silent_p.L313L|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	313					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CTCGTGAGCTTAGGGTGCTGA	0.363000													29	149					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574902	142574902	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:142574902G>A	ENST00000359396.3	-	4	725	c.480C>T	c.(478-480)atC>atT	p.I160I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	160					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CACCAAAGTAGATGAGGTTGC	0.627000													9	59					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123276869	123276869	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:123276869C>A	ENST00000451558.1	+	14	2122	c.1601C>A	c.(1600-1602)cCt>cAt	p.P534H	ASB15_ENST00000451215.1_Missense_Mutation_p.P534H|ASB15_ENST00000434204.1_Missense_Mutation_p.P534H|ASB15_ENST00000540573.1_Missense_Mutation_p.P534H|ASB15_ENST00000275699.3_Missense_Mutation_p.P534H			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	534	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTAGAGAATCCTTGTTCATTG	0.388000													21	138					6.44725e-10	8.00424e-10	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39227504	39227504	+	Missense_Mutation	SNP	C	C	T	rs147374766	byFrequency	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:39227504C>T	ENST00000340369.3	-	2	3661	c.3433G>A	c.(3433-3435)Gct>Act	p.A1145T	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1145							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACGGGATGAGCGGTGTAGATG	0.617000													6	106					0	0	1	0	0
SVILP1	645954	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C	rs117915096	by1000genomes	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:30986357T>C	ENST00000435645.1	+	0	347																											CGGCGCTCAATAGTGGGGACT	0.552000													3	27					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999851	124999851	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:124999851A>T	ENST00000431078.1	+	3	626	c.262A>T	c.(262-264)Att>Ttt	p.I88F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	88	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGAGTAGAGATTACAGCAGT	0.527000													7	28					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271883	22271883	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:22271883C>T	ENST00000594947.1	+	4	1475	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCGGTCTTCATACCTTATT	0.408000													14	73					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41533559	41533559	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:41533559G>T	ENST00000373060.1	+	2	519	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	FOXP4_ENST00000307972.4_Missense_Mutation_p.G21C|FOXP4_ENST00000409208.1_Missense_Mutation_p.G21C|FOXP4_ENST00000373063.3_Missense_Mutation_p.G21C|FOXP4_ENST00000373057.3_Missense_Mutation_p.G21C	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	21					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GAATGGCGTGGGCAGCCTCTC	0.622000													36	133					7.04047e-22	1.00775e-21	1	1	0
SNAPC2	6618	broad.mit.edu	37	19	7986943	7986943	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:7986943A>T	ENST00000221573.6	+	4	447	c.396A>T	c.(394-396)gaA>gaT	p.E132D	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	132					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGCCACGGAACCGGTCACCC	0.647000													12	244					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53215675	53215675	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:53215675G>A	ENST00000330553.5	-	9	1623	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	530	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGCTGGACGTCTTGACCGT	0.597000													4	43					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118352428	118352428	+	Splice_Site	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:118352428A>T	ENST00000534358.1	+	7	3657		c.e7-1		KMT2A_ENST00000354520.4_Splice_Site|KMT2A_ENST00000389506.5_Splice_Site	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTTTTCCCTCAGCTGTGAAAA	0.383000													38	104					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22063152	22063152	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:22063152T>C	ENST00000261200.4	-	8	1258	c.1259A>G	c.(1258-1260)gAa>gGa	p.E420G	ABCC9_ENST00000345162.2_Missense_Mutation_p.E420G|ABCC9_ENST00000261201.4_Missense_Mutation_p.E420G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	420	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATTAGTTTCAATGGCGAC	0.403000													45	214					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153674471	153674471	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:153674471G>A	ENST00000297107.6	+	2	392	c.255G>A	c.(253-255)caG>caA	p.Q85Q	GALNT10_ENST00000425427.2_Silent_p.Q85Q|GALNT10_ENST00000377661.2_Silent_p.Q85Q	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	85						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGACGCTCAGCGCGTAGGTA	0.537000													9	83					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59750771	59750771	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:59750771C>A	ENST00000361421.1	-	5	1013	c.793G>T	c.(793-795)Gtg>Ttg	p.V265L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	265						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TAGGCAGACACAGGCTTCTGG	0.473000													37	223					4.11147e-13	5.34053e-13	1	1	0
PLD5	200150	broad.mit.edu	37	1	242383374	242383374	+	Silent	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:242383374G>C	ENST00000442594.2	-	6	884	c.375C>G	c.(373-375)ggC>ggG	p.G125G	PLD5_ENST00000427495.1_Silent_p.G155G|PLD5_ENST00000536534.1_Silent_p.G217G	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	217						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ACTGCAGCCGGCCCTTGTTGT	0.567000													14	85					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595369	55595369	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:55595369C>A	ENST00000378397.1	+	1	675	c.675C>A	c.(673-675)atC>atA	p.I225I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCACCACTATCCTGAAGATAC	0.483000										HNSCC(27;0.073)			21	192					0.000229342	0.000245483	1	1	0
FRMD8	83786	broad.mit.edu	37	11	65154544	65154544	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:65154544C>G	ENST00000317568.5	+	2	200	c.37C>G	c.(37-39)Ccc>Gcc	p.P13A	FRMD8_ENST00000531296.1_Missense_Mutation_p.P13A|FRMD8_ENST00000416776.2_Missense_Mutation_p.P13A|FRMD8_ENST00000355991.5_Missense_Mutation_p.P13A	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	13						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GCAGCCCGGCCCCGCTGAGCG	0.672000													45	197					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590630	156590630	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:156590630C>T	ENST00000302938.4	-	2	741	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	216						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGTAGAGCCCAGTCTCACTC	0.522000													21	113					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815466	106815466	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:106815466G>A	ENST00000407775.2	+	8	3406	c.3156G>A	c.(3154-3156)gaG>gaA	p.E1052E	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.E920E|ZFPM2_ENST00000378472.4_Silent_p.E783E|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.E920E|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1052					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AACAAGATGAGAGACCTGCTG	0.483000													4	63					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			21	68					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141959	54141959	+	Silent	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:54141959T>C	ENST00000265572.3	-	4	1338	c.1041A>G	c.(1039-1041)ccA>ccG	p.P347P	OPRK1_ENST00000520287.1_Silent_p.P347P|OPRK1_ENST00000524278.1_Silent_p.P258P|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	347					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TCATCTTCAGTGGAAAGCAGA	0.483000													14	78					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921578	25921578	+	Silent	SNP	C	C	A	rs140882650		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:25921578C>A	ENST00000377850.3	-	4	827	c.303G>T	c.(301-303)ggG>ggT	p.G101G	SLC17A2_ENST00000360488.3_Silent_p.G101G|SLC17A2_ENST00000265425.3_Silent_p.G101G			O00624	NPT3_HUMAN	solute carrier family 17, member 2	101					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCAGTATTATCCCATAGTTGA	0.438000													9	94					1.76689e-08	2.13548e-08	1	1	0
FRMD7	90167	broad.mit.edu	37	X	131219611	131219611	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chrX:131219611G>A	ENST00000298542.4	-	7	818	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FRMD7_ENST00000370879.1_Missense_Mutation_p.R95W|FRMD7_ENST00000464296.1_Missense_Mutation_p.R200W	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	215	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTTACCCGTAACACCAGT	0.512000													6	124					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155312	12155312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:12155312C>A	ENST00000602107.1	-	5	1044	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Nonsense_Mutation_p.E302*|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTTTTCTTTCATGTACTCGC	0.413000													10	95					1.58986e-06	1.82484e-06	1	1	0
OR9A4	130075	broad.mit.edu	37	7	141618692	141618692	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:141618692C>A	ENST00000548136.1	+	1	76	c.17C>A	c.(16-18)tCt>tAt	p.S6Y	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATGAATTACTCTAGTGCCACT	0.363000													39	260					5.59293e-11	7.06373e-11	1	1	0
LRFN1	57622	broad.mit.edu	37	19	39798957	39798957	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:39798957G>A	ENST00000248668.4	-	2	1631	c.1632C>T	c.(1630-1632)atC>atT	p.I544I		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	544						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGAGGCGACGATGACGCCCC	0.657000													10	43					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100481553	100481553	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:100481553C>A	ENST00000370552.3	-	5	876	c.817G>T	c.(817-819)Gca>Tca	p.A273S	HPSE2_ENST00000404542.1_Missense_Mutation_p.A161S|HPSE2_ENST00000370546.1_Missense_Mutation_p.A273S|HPSE2_ENST00000370549.1_Missense_Mutation_p.A215S	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	273					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATTTACTGCCCGGCCATGC	0.468000													7	125					0.000157383	0.000168956	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11105607	11105607	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:11105607A>C	ENST00000358026.2	+	9	1807	c.1523A>C	c.(1522-1524)cAt>cCt	p.H508P	SMARCA4_ENST00000541122.2_Missense_Mutation_p.H508P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H508P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H508P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H508P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H508P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H508P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H508P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H508P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	508	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCACGTACCATGCCAACACG	0.537000			"""F, N, Mis"""		NSCLC								12	36					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352325	70352325	+	Splice_Site	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:70352325A>T	ENST00000305107.6	-	4	1137		c.e4+1		UGT2B4_ENST00000512583.1_Splice_Site|UGT2B4_ENST00000381096.3_Splice_Site|UGT2B4_ENST00000506580.1_Splice_Site	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCAGAGACTTACCAAGAAGAT	0.343000													31	174					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20233197	20233197	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:20233197G>C	ENST00000361479.5	+	6	1707	c.1639G>C	c.(1639-1641)Gat>Cat	p.D547H	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.D547H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	547					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAGTTGGAAGATTTCCAAAA	0.408000													31	158					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136806	80136806	+	Silent	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:80136806C>G	ENST00000466387.1	+	11	1663	c.939C>G	c.(937-939)ggC>ggG	p.G313G	CTNNA2_ENST00000540488.1_Silent_p.G313G|CTNNA2_ENST00000541047.1_Silent_p.G313G|CTNNA2_ENST00000361291.4_Silent_p.G347G|CTNNA2_ENST00000496558.1_Silent_p.G313G|CTNNA2_ENST00000402739.4_Silent_p.G313G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	313					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATCAGCGGCGCAGCGCTGA	0.637000													20	123					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945031	151945031	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:151945031T>C	ENST00000355193.2	-	14	2706	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	KMT2C_ENST00000262189.6_Missense_Mutation_p.I830V					lysine (K)-specific methyltransferase 2C																		CTCTTAGTAATAGCTGGTTTA	0.383000													27	671					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16974038	16974038	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:16974038G>T	ENST00000318063.5	+	13	1495	c.1453G>T	c.(1453-1455)Gac>Tac	p.D485Y		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		TTTTGATGTTGACAAAGATGA	0.318000													14	81					9.05144e-12	1.15922e-11	1	1	0
NOS1	4842	broad.mit.edu	37	12	117718542	117718542	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:117718542C>A	ENST00000317775.6	-	8	2197	c.1512G>T	c.(1510-1512)gtG>gtT	p.V504V	NOS1_ENST00000338101.4_Silent_p.V504V|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	504					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGTGAACTGCACATTGGCTG	0.592000													9	101					2.74318e-10	3.42897e-10	1	1	0
IER5	51278	broad.mit.edu	37	1	181058331	181058331	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:181058331C>T	ENST00000367577.4	+	1	694	c.293C>T	c.(292-294)aCc>aTc	p.T98I		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	98										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						TGGCCGGAGACCGAGCCGCAG	0.781000													4	10					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58478842	58478842	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:58478842C>A	ENST00000267485.7	-	6	2310	c.2116G>T	c.(2116-2118)Gac>Tac	p.D706Y		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	706						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTACCTTGTCTTTTAATTTT	0.279000													18	26					2.4624e-09	3.02618e-09	1	1	0
CYP7A1	1581	broad.mit.edu	37	8	59409537	59409537	+	Silent	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:59409537C>G	ENST00000301645.3	-	3	671	c.534G>C	c.(532-534)gtG>gtC	p.V178V		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	178					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTTCAAACATCACTCGGTAGC	0.438000									Neonatal Giant Cell Hepatitis				16	220					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100906	50100906	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:50100906G>A	ENST00000298292.8	-	1	1042	c.962C>T	c.(961-963)tCg>tTg	p.S321L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S321L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	321					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GTACGGGAGCGAGAGCCGCAG	0.677000													5	30					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223060	115223060	+	Missense_Mutation	SNP	C	C	A	rs149424604		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:115223060C>A	ENST00000369538.3	-	5	721	c.674G>T	c.(673-675)cGa>cTa	p.R225L	AMPD1_ENST00000353928.6_Missense_Mutation_p.R196L|AMPD1_ENST00000520113.2_Missense_Mutation_p.R229L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	196					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTTGTCTGTTCGGAAGGGGTC	0.423000													18	172					0.00741294	0.00770861	1	1	0
SENP2	59343	broad.mit.edu	37	3	185332451	185332451	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:185332451A>G	ENST00000296257.5	+	11	1273	c.1033A>G	c.(1033-1035)Ata>Gta	p.I345V	SENP2_ENST00000545472.1_Missense_Mutation_p.I335V|SENP2_ENST00000427465.2_Missense_Mutation_p.I169V	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	345					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAAAGTGTCAATAATTGAGAC	0.483000													17	108					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33486406	33486406	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:33486406A>G	ENST00000268876.5	+	8	918	c.821A>G	c.(820-822)gAc>gGc	p.D274G	UNC45B_ENST00000394570.2_Missense_Mutation_p.D274G|UNC45B_ENST00000591048.1_Missense_Mutation_p.D274G|UNC45B_ENST00000433649.1_Missense_Mutation_p.D274G|UNC45B_ENST00000378449.1_Missense_Mutation_p.D274G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	274					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACCAAGAAGGACCTGAAGCAG	0.502000													43	616					0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101980343	101980343	+	Splice_Site	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:101980343A>T	ENST00000370397.7	-	5	561		c.e5+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GGTTTCACCTACCTTTCCACC	0.368000													5	65					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285978	238285978	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:238285978C>T	ENST00000295550.4	-	7	2959	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	COL6A3_ENST00000392003.2_Missense_Mutation_p.R429Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R635Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R630Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R630Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R636Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R229Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R630Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	836	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R836Q(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGAATGTCTCGCTTGCTCTC	0.478000													19	124					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23833204	23833204	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:23833204G>A	ENST00000264867.2	-	3	524	c.405C>T	c.(403-405)ccC>ccT	p.P135P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	135					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTGCCTCCTGGGGTGGAGGGG	0.542000													16	193					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42569525	42569525	+	Silent	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:42569525C>T	ENST00000433647.1	+	7	1047	c.423C>T	c.(421-423)ttC>ttT	p.F141F	VIPR1_ENST00000325123.4_Silent_p.F182F|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Silent_p.F134F|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Intron	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	182					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGCACCTCTTCATATCCTTCA	0.612000													14	211					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183211924	183211924	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:183211924G>T	ENST00000341319.3	-	5	1328	c.1293C>A	c.(1291-1293)ggC>ggA	p.G431G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	431										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TTCTCTGTAAGCCGTCAAAGC	0.458000													33	216					1.26612e-14	1.68048e-14	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81545787	81545787	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:81545787G>T	ENST00000548058.1	+	7	1920	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	ACSS3_ENST00000261206.3_Missense_Mutation_p.W336L|ACSS3_ENST00000548324.1_Missense_Mutation_p.W19L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	337						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						taGGTGTGGTGGGCAGCTTCT	0.353000													24	114					3.08376e-08	3.71476e-08	1	1	0
CCSER1	401145	broad.mit.edu	37	4	91230013	91230013	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:91230013A>T	ENST00000509176.1	+	2	866	c.578A>T	c.(577-579)aAg>aTg	p.K193M	CCSER1_ENST00000432775.2_Missense_Mutation_p.K193M|CCSER1_ENST00000333691.8_Missense_Mutation_p.K193M	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AAATTTTCTAAGCCAGTTCTA	0.388000													17	84					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360240	72360240	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:72360240T>A	ENST00000001146.2	-	5	1261	c.1058A>T	c.(1057-1059)tAc>tTc	p.Y353F	CYP26B1_ENST00000546307.1_Missense_Mutation_p.Y278F|CYP26B1_ENST00000412253.1_Missense_Mutation_p.Y162F	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	353					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCAGTCCAGGTAGCGCAGCCC	0.652000													8	65					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237778116	237778116	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:237778116G>A	ENST00000366574.2	+	37	6005	c.5688G>A	c.(5686-5688)atG>atA	p.M1896I	RYR2_ENST00000360064.6_Missense_Mutation_p.M1894I|RYR2_ENST00000542537.1_Missense_Mutation_p.M1880I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1896	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCTCCAAATGAAACTGCCAG	0.483000													11	67					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634230	1634230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:1634230C>G	ENST00000545662.1	+	2	209	c.41C>G	c.(40-42)tCa>tGa	p.S14*	WDR81_ENST00000309182.5_Missense_Mutation_p.I268M|WDR81_ENST00000419248.1_Missense_Mutation_p.I92M|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000437219.2_Missense_Mutation_p.I116M|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000409644.1_Missense_Mutation_p.I1319M			B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	432										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCCTACATCAGCTACCTGG	0.672000													29	86					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40569301	40569301	+	Silent	SNP	G	G	A	rs72214959		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr21:40569301G>A	ENST00000342449.3	-	41	5772	c.5694C>T	c.(5692-5694)tcC>tcT	p.S1898S	BRWD1_ENST00000380800.3_Silent_p.S1898S|BRWD1_ENST00000333229.2_Silent_p.S1898S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCCTTTTCCTGGAAATTTTTC	0.368000													29	139					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89401929	89401929	+	Splice_Site	SNP	C	C	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:89401929C>T	ENST00000260508.4	-	14	1640		c.e14-1		CCBL2_ENST00000370491.3_Splice_Site|CCBL2_ENST00000446900.2_Splice_Site|CCBL2_ENST00000370485.2_Splice_Site	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2						biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCTGTCTTTCTGTAAATTAA	0.308000													6	43					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384427	12384427	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:12384427G>A	ENST00000356109.5	-	5	905	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	ZNF44_ENST00000355684.5_Missense_Mutation_p.H215Y	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTTCTTTCATGCATACGTAAT	0.383000													21	208					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288392	27288392	+	Splice_Site	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr8:27288392G>T	ENST00000397501.1	+	13	1477		c.e13-1		PTK2B_ENST00000420218.2_Splice_Site|PTK2B_ENST00000544172.1_Splice_Site|PTK2B_ENST00000346049.5_Splice_Site|PTK2B_ENST00000517339.1_Splice_Site|PTK2B_ENST00000338238.4_Splice_Site	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta						apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCCTCCCCCAGCCCAAACAGT	0.587000													16	95					8.28177e-16	1.11957e-15	1	1	0
USP8	9101	broad.mit.edu	37	15	50791225	50791225	+	Silent	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:50791225A>T	ENST00000433963.1	+	21	3797	c.3297A>T	c.(3295-3297)tcA>tcT	p.S1099S	USP8_ENST00000307179.4_Silent_p.S1099S|USP8_ENST00000425032.3_Silent_p.S993S|USP8_ENST00000396444.3_Silent_p.S1099S	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1099					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAATCTTCAGCAGCTTATA	0.378000													19	111					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280043	152280043	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:152280043C>G	ENST00000368799.1	-	3	7354	c.7319G>C	c.(7318-7320)gGa>gCa	p.G2440A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGTGGGATCCTTGTCTTCC	0.592000									Ichthyosis				92	524					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958062	176958062	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:176958062G>A	ENST00000392539.3	+	1	444	c.444G>A	c.(442-444)caG>caA	p.Q148Q		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	148					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCTTACAGCAGAATGCGCTCA	0.662000			T	NUP98	AML*								7	57					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29608289	29608289	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:29608289A>T	ENST00000318184.5	-	20	2329	c.2330T>A	c.(2329-2331)gTc>gAc	p.V777D	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	777	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCATAGAGGACAAAGGGACC	0.468000													17	92					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805706	22805706	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr18:22805706G>T	ENST00000361524.3	-	4	2324	c.2176C>A	c.(2176-2178)Ctc>Atc	p.L726I	ZNF521_ENST00000584787.1_Missense_Mutation_p.L506I|ZNF521_ENST00000538137.2_Missense_Mutation_p.L726I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	726					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCTGGCAGAGGGTGCAGCGA	0.453000			T	PAX5	ALL								26	132					2.41591e-17	3.30265e-17	1	1	0
SOD2	6648	broad.mit.edu	37	6	160113660	160113660	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr6:160113660G>C	ENST00000452684.2	-	2	335	c.259C>G	c.(259-261)Ccc>Gcc	p.P87A	SOD2_ENST00000367054.2_Intron|SOD2_ENST00000367055.4_Intron|SOD2_ENST00000337404.4_Intron|SOD2_ENST00000444946.2_Intron|SOD2_ENST00000538183.1_Intron|SOD2_ENST00000546087.1_Intron			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	0					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CCTCTGCCGGGGACTGCCTCC	0.642000													7	32					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758794	55758794	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:55758794C>A	ENST00000395863.3	-	4	1447	c.942G>T	c.(940-942)cgG>cgT	p.R314R	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.R314R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	314					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGTTGGCCATCCGCAGGGCTT	0.642000													29	99					6.00712e-18	8.3053e-18	1	1	0
KLHL24	54800	broad.mit.edu	37	3	183368814	183368814	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr3:183368814G>C	ENST00000454652.1	+	4	1056	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	KLHL24_ENST00000242810.6_Missense_Mutation_p.G224R|KLHL24_ENST00000476808.1_Missense_Mutation_p.G224R			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	224	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACTTGTTATTGGTAAAGAGGA	0.418000													11	109					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73526309	73526309	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:73526309A>T	ENST00000418310.1	+	12	1583	c.1481A>T	c.(1480-1482)cAc>cTc	p.H494L	LIMK1_ENST00000336180.2_Missense_Mutation_p.H464L|LIMK1_ENST00000538333.3_Missense_Mutation_p.H430L			P53667	LIMK1_HUMAN	LIM domain kinase 1	464	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CTCAACTCCCACAACTGCCTG	0.652000													26	124					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160276	38160276	+	Splice_Site	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:38160276C>G	ENST00000379747.4	-	7	1012	c.895_splice	c.e7+1	p.A299_splice	POSTN_ENST00000379743.4_Splice_Site_p.A299_splice|POSTN_ENST00000541481.1_Splice_Site_p.A299_splice|POSTN_ENST00000541179.1_Splice_Site_p.A299_splice|POSTN_ENST00000379742.4_Splice_Site_p.A299_splice|POSTN_ENST00000379749.4_Splice_Site_p.A299_splice	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	299	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTAAACTACCTTCGGAAGCC	0.418000													14	112					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113568678	113568678	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:113568678G>T	ENST00000509061.1	+	9	1294	c.991G>T	c.(991-993)Gca>Tca	p.A331S	MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.A324S|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.A324S|MIR302B_ENST00000510655.1_RNA	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	324	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CATTAAGGAAGCATCAGAAGC	0.313000													24	112					7.87624e-14	1.03784e-13	1	1	0
FBN2	2201	broad.mit.edu	37	5	127730833	127730833	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr5:127730833A>T	ENST00000508053.1	-	15	2187	c.1213T>A	c.(1213-1215)Tgt>Agt	p.C405S	FBN2_ENST00000508989.1_Missense_Mutation_p.C372S|FBN2_ENST00000262464.4_Missense_Mutation_p.C405S			P35556	FBN2_HUMAN	fibrillin 2	405	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGACAGGACAGGCTTCAGGA	0.542000													7	57					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569988	241569988	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:241569988G>T	ENST00000319838.5	+	6	1561	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	GPR35_ENST00000438013.2_Missense_Mutation_p.G238W|GPR35_ENST00000407714.1_Missense_Mutation_p.G207W|GPR35_ENST00000403859.1_Missense_Mutation_p.G207W|GPR35_ENST00000430267.1_Missense_Mutation_p.G207W	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	207						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CACCGACGTGGGGCAGGCAGA	0.687000													13	59					0.00185496	0.00195682	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46946429	46946429	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:46946429T>G	ENST00000429979.1	-	3	786	c.182A>C	c.(181-183)cAa>cCa	p.Q61P	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.Q61P|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.Q61P|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.Q61P|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.Q61P|KIAA0226L_ENST00000378784.4_Intron	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	61										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CTGCGGCTGTTGCTGCACATC	0.562000													12	77					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685485	248685485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:248685485G>T	ENST00000343414.4	+	1	570	c.538G>T	c.(538-540)Gag>Tag	p.E180*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATTTTCTGTGAGGTGCCAGT	0.522000													18	116					3.52763e-06	3.99871e-06	1	1	0
NUP214	8021	broad.mit.edu	37	9	134050989	134050989	+	Silent	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:134050989G>A	ENST00000359428.5	+	23	3444	c.3300G>A	c.(3298-3300)caG>caA	p.Q1100Q	NUP214_ENST00000411637.2_Silent_p.Q1090Q|NUP214_ENST00000451030.1_Silent_p.Q1101Q			P35658	NU214_HUMAN	nucleoporin 214kDa	1100	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCAGGCGGCAGATGGCCAGTC	0.582000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								10	35					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114520998	114520998	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:114520998G>T	ENST00000394779.3	-	2	508	c.264C>A	c.(262-264)atC>atA	p.I88I	C9orf84_ENST00000374283.5_Silent_p.I191I|C9orf84_ENST00000318737.4_Silent_p.I127I|C9orf84_ENST00000394777.4_Silent_p.I88I|C9orf84_ENST00000374287.3_Silent_p.I127I	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	127										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCTGTGAAGATCTGTCCTT	0.328000													11	56					7.03913e-09	8.56427e-09	1	1	0
CLRN2	645104	broad.mit.edu	37	4	17528587	17528587	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:17528587C>A	ENST00000511148.2	+	3	683	c.581C>A	c.(580-582)gCc>gAc	p.A194D		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	194						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCTGCGTGGCCAGCGCTTCG	0.522000													14	101					3.27435e-08	3.93138e-08	1	1	0
KANK1	23189	broad.mit.edu	37	9	711405	711405	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:711405G>C	ENST00000382303.1	+	7	1291	c.639G>C	c.(637-639)caG>caC	p.Q213H	KANK1_ENST00000382293.3_Missense_Mutation_p.Q55H|KANK1_ENST00000382297.2_Missense_Mutation_p.Q213H|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	213					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACCAGCTTCAGAATGGATACC	0.577000													17	63					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634672	79634672	+	Silent	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:79634672G>T	ENST00000376708.1	+	1	102	c.102G>T	c.(100-102)ctG>ctT	p.L34L		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	34					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						AGAAGATGCTGCCGCTGAGCG	0.602000													6	33					0.00198382	0.00208673	1	1	0
GBA3	57733	broad.mit.edu	37	4	22749412	22749412	+	RNA	SNP	C	C	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:22749412C>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCATATTCATCGATGGTGATT	0.443000													13	115					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308754	20308754	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:20308754G>T	ENST00000335117.8	+	4	1292	c.1235G>T	c.(1234-1236)gGc>gTc	p.G412V	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GAAGAATGTGGCAAAGCGTAT	0.393000													8	68					0.0477658	0.048295	1	1	0
GALNS	2588	broad.mit.edu	37	16	88898457	88898457	+	Silent	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr16:88898457C>A	ENST00000268695.5	-	9	1039	c.951G>T	c.(949-951)ggG>ggT	p.G317G	GALNS_ENST00000542788.1_Silent_p.G242G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	317						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GCTCCCTCATCCCTCCTTCAA	0.667000													9	51					0.0581538	0.0586357	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201018184	201018184	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:201018184T>A	ENST00000362061.3	-	35	4511	c.4285A>T	c.(4285-4287)Att>Ttt	p.I1429F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1410F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1429					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGGGCTGAATCCTTCTCAGC	0.597000													6	52					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912745	23912745	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr13:23912745G>A	ENST00000382298.3	-	10	5858	c.5270C>T	c.(5269-5271)tCt>tTt	p.S1757F	SACS_ENST00000402364.1_Missense_Mutation_p.S1007F|SACS_ENST00000382292.3_Missense_Mutation_p.S1757F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1757					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAATGCAAGATGACTTTGG	0.418000													19	251					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8319961	8319961	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr9:8319961C>A	ENST00000381196.4	-	42	6083	c.5540G>T	c.(5539-5541)gGc>gTc	p.G1847V	PTPRD_ENST00000397611.3_Missense_Mutation_p.G1437V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1440V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1440V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1834V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1825V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1437V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1847V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1847V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1440V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1441V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1847	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTTCCAACGCCCGCGCTGCC	0.443000										TSP Lung(15;0.13)			14	59					6.81908e-15	9.08381e-15	1	1	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000531198.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													11	12					7.93312e-07	9.22162e-07	1	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													8	77	---	---	---	---					
AC011754.1	0	broad.mit.edu	37	2	79390700	79390701	+	RNA	INS	-	-	G			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:79390700_79390701insG	ENST00000415201.1	+	0	153																											cctgctgaactggggtgtagta	0.530													3	5	---	---	---	---					
MED15P9	285103	broad.mit.edu	37	2	130895253	130895253	+	RNA	DEL	C	C	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:130895253delC	ENST00000427638.1	+	0	755					NR_033903.1																						TGCGTGACCTCCAGGCAGCCA	0.622													2	4	---	---	---	---					
PLCD4	84812	broad.mit.edu	37	2	219492797	219492820	+	In_Frame_Del	DEL	TCTGCTCTAAGGATGGAGACATCT	TCTGCTCTAAGGATGGAGACATCT	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr2:219492797_219492820delTCTGCTCTAAGGATGGAGACATCT	ENST00000450993.2	+	7	1157_1180	c.818_841delTCTGCTCTAAGGATGGAGACATCT	c.(817-843)ctc>c	p.LCSKDGDIF273del	PLCD4_ENST00000417849.1_In_Frame_Del_p.LCSKDGDIF273del|PLCD4_ENST00000432688.1_In_Frame_Del_p.LCSKDGDIF273del	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	273					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTCAGCTACCTCTGCTCTAAGGATGGAGACATCTTCAACCCAGC	0.531													12	129	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													10	189	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319215	54319224	+	Frame_Shift_Del	DEL	GACCGTGATC	GACCGTGATC	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:54319215_54319224delGACCGTGATC	ENST00000337488.6	+	16	1608_1617	c.1414_1423delGACCGTGATC	c.(1414-1425)ggfs	p.DRDR472fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.DRDR398fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.DRDR466fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	472	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R475W(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			cagagagcgagaccgtgatcgggacagaga	0.510			T	PDGFRA	idiopathic hypereosinophilic syndrome								16	109	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155253844	155253845	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr4:155253844_155253845insT	ENST00000357232.3	-	9	2017_2018	c.2018_2019insA	c.(2017-2019)agtfs	p.S673fs	DCHS2_ENST00000339452.1_Frame_Shift_Ins_p.S1172fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	673	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGTGCTCACATTTTGCAAGAA	0.446													27	236	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140453126	140453137	+	In_Frame_Del	DEL	TCGAGATTTCAC	TCGAGATTTCAC	-	rs104886015		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr7:140453126_140453137delTCGAGATTTCAC	ENST00000288602.6	-	15	1858_1869	c.1798_1809delGTGAAATCTCGA	c.(1798-1809)del	p.VKSR600del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.K601E(40)|p.V600M(21)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.K601N(10)|p.V600L(9)|p.R603*(4)|p.V600Q(2)|p.W604del(2)|p.T599_V600>IAL(2)|p.T599_V600insT(2)|p.T599_R603>I(2)|p.K601K(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.K601del(1)|p.V600_S605>EK(1)|p.K601I(1)|p.T599_V600insTT(1)|p.S602S(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACCCACTCCATCGAGATTTCACTGTAGCTAGA	0.377	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	119	---	---	---	---					
ABCC2	1244	broad.mit.edu	37	10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(880-885)aaaaaafs	p.KK294fs		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	294						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATGTTGAAAAGAAAAAAAAGAA	0.441													7	335	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													7	194	---	---	---	---					
DCDC1	341019	broad.mit.edu	37	11	30915866	30915866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:30915866delC	ENST00000597505.1	-	33	4821	c.4822delG	c.(4822-4824)tgfs	p.V1609fs	DCDC1_ENST00000406071.2_Frame_Shift_Del_p.V347fs			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTCAACCACCACGGGCTGC	0.478													20	90	---	---	---	---					
TAF6L	10629	broad.mit.edu	37	11	62554677	62554677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr11:62554677delG	ENST00000294168.3	+	11	1979	c.1778delG	c.(1777-1779)ccfs	p.R593fs	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	593					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCGGCCTCGCGCTACGTGCAG	0.692											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													10	307	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36194270	36194270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr14:36194270delT	ENST00000258840.6	-	14	2216	c.1826delA	c.(1825-1827)atfs	p.N609fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	609					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGGTCATATTTTTTTTCCC	0.378													7	222	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													11	13	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													7	47	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578489	7578489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr17:7578489delA	ENST00000420246.2	-	5	573	c.441delT	c.(439-441)gtfs	p.V147fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.V147fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V147fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V147fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V147fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V147fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	147	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> F (in a sporadic cancer; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V147V(3)|p.D148fs*33(2)|p.V147E(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.D148fs*23(1)|p.D148fs*34(1)|p.D148fs*22(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGTGGAATCAACCCACAGCT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	65	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													8	19	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													2	4	---	---	---	---					
NKX2-2	4821	broad.mit.edu	37	20	21493117	21493117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8660-01A-11D-2393-08	TCGA-78-8660-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68507d4d-9ccc-4aeb-a63a-14347148938c	0df31b8b-881c-40ad-977c-f4711e8a2ad9	g.chr20:21493117delC	ENST00000377142.4	-	2	622	c.266delG	c.(265-267)gtfs	p.G89fs		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	89					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGCCAGACCGTGCACTGG	0.721													5	10	---	---	---	---					
